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Archive for the ‘Gene Therapy Doctor’ Category

After the Nobel, what next for Crispr gene-editing therapies? – The Guardian

When last years Nobel prize for chemistry was awarded to biochemist Jennifer Doudna and microbiologist Emmanuelle Charpentier for their work in developing the technique of gene editing known as Crispr-Cas9 (pronounced crisper), headlines hailed their discovery as molecular scissors that would allow us to rewrite the book of life with all the complicated ethical questions that ability raises. But much of the excitement has nothing to do with visions of designer babies. The real promise of Crispr is for treating diseases caused by genetic mutations, from muscular dystrophy to congenital blindness, and even some cancers.

The first human trials of Crispr therapies are happening already, and researchers hope that they are on the brink of reaching the clinic. The speed at which Crispr research has progressed has been truly astonishing, says Doudna from the University of California at Berkeley.

Many common diseases, including heart conditions, Alzheimers and diabetes, are partly caused by genes: people who inherit the wrong variants of certain genes are more vulnerable. For many of these conditions the genetic component is complicated: many genes are involved. Other diseases, such as cystic fibrosis, might be caused by the malfunction of just one or a few genes. In that case, the disease might be cured entirely by gene editing: replacing the faulty genes with the healthy variant.

This gene therapy approach has been a goal ever since scientists first began learning how to edit genes in the 1970s. But it has never yet lived up to the hype, because editing one gene among about 21,000 others in the DNA of each of our cells is hard. It requires very accurate tools for finding the gene, snipping the DNA at that point, and then stitching in a new gene (or fragment of one) in its place.

Biologists have been able to make such edits for decades, but not precisely enough for safe clinical use. If editing is too messy or inadvertently alters other genes too, the consequences could be dire in particular, an unintended mutation could trigger cancer.

Crispr changed all that. The technique uses an enzyme molecule called Cas9, first found in bacteria, which can be reliably programmed to find its target. It carries with it a piece of genetic material called RNA, similar to DNA, which holds the sequence of the target site. When the enzyme finds the DNA sequence matching that on its RNA reference strand, it snips the DNA double helix in two. Other enzymes can then insert another piece of DNA encoding the healthy sequence, say into the break.

When the Crispr system was first reported in 2012 by Doudna, Charpentier and other researchers, the unprecedented accuracy of gene-editing it permitted quickly began to transform the possibilities for tailoring a genome the sum of an organisms DNA to order. The roles and effects of genes could be deduced by cutting them out or modifying them.

Some researchers hope we can use Crispr to boost our immune system so that it is better at destroying cancer cells

Crispr also made gene-editing more viable for medicine. The first diseases researchers are looking at, Doudna says, are those that require a simple change in a single gene and in a cell or tissue that we can target easily. As its a new and expensive approach, she adds, it makes sense to prioritise diseases for which no other treatments exist.

Some blood disorders, such as sickle-cell anaemia and beta thalassemia, fit the bill. In sickle-cell disease, a mutation in the gene for haemoglobin (the oxygen-carrying protein in red blood cells) changes the cells shape, causing problems with blood flow. In a procedure developed by a hospital in Tennessee, last year a Mississippi woman named Victoria Gray became the first person to receive an experimental Crispr treatment for sickle-cell anaemia. Blood-forming stem cells from her bone marrow were collected and treated outside her body to alter a gene involved in haemoglobin production, before being transfused back. So far the treatment seems to be successful: Gray has not needed the regular blood transfusions or hospitalisations her condition previously necessitated.

She is now taking part in trials on Crispr treatments of both sickle-cell disease and beta thalassemia conducted in Boston by Crispr Therapeutics in collaboration with Vertex Pharmaceuticals. Doudna warns, however, that the early therapies are going to be quite expensive. Lowering the cost is one of the key aims of her Innovative Genomics Institute at Berkeley. Having a cure for sickle-cell disease that few people can afford is not a solution to the problem, she says.

One great attraction of Crispr, says Niren Murthy, a bioengineer at Berkeley, is that it could be a one-shot affair. You have the treatment and the gene is fixed for good, rather than you having to return to the doctor every few months. Whats more, the gene-editing doesnt have to be particularly efficient to work. With sickle-cell disease, it appears that correcting the mutation in just 5% of a patients stem cells would be enough to have a positive clinical effect, says Doudna. Were aiming for much higher than that, of course the more you can target your treatment, the higher the efficiency.

One key advantage in treating these diseases is that its easy to get the Crispr system to the right place: the blood. For editing other tissues, the challenge is to cross the barrier between the bloodstream, where a drug would be introduced, and the cells of the tissue. If you just inject the molecular components into the blood, they get quickly degraded by the bodys immune system. Its better to load them into some tiny vehicle or vector such as synthetic particles or disabled viruses (thats how the active ingredients of Covid vaccines are delivered). But these tend to be too large to get through membranes and into tissues. The delivery problem is very large, Murthy says. If someone was able to solve it, that would open up a lot more therapeutic opportunities.

Five years ago, the prospect of correcting a single base pair that causes afatal genetic disease seemed like science fiction

Some researchers hope that Crispr can combat cancer. One approach would use gene-editing to boost our immune system so that it is better at destroying tumour cells. Such cancer immunotherapy is already showing great promise, but Crispr could make it more efficient or effective, says Doudna. The basic concept is to edit a patients T-cells [a type of white blood cell central to the immune response] and reintroduce them to the bloodstream so that they can recognise and attack cancer cells.

The first human trial for Crispr-boosted (lung) cancer immunotherapy happened in China in 2016. There have also been efforts to treat some types of blood and bone cancers this way. But its too early to say how effective the treatments are, Doudna says. Another option is to use Crispr to disable cancer cells themselves but again, the challenge is getting the gene-editing machinery into tumours. For blood cancers such as leukaemia, Murthy points out, this delivery problem doesnt arise.

Atherosclerosis (a cause of stroke and heart disease) is another important target. Some people have a genetic vulnerability to it because their cells produce too much of a protein called PCSK9, which stops a molecule called LDL cholesterol from being broken down. High levels of LDL cholesterol can create hardening of the arteries, which in turn may induce heart failure.

Cholesterol breakdown takes place in the liver, which is one of the few tissues for which good drug-delivery vehicles have been developed. That makes PCSK9-related atherosclerosis an ideal target for Crispr therapy. Last year, the US biotech startup Verve, based in Cambridge, Massachusetts, began trialling this approach, using artificial nanoparticles made from fatty lipids to ferry the gene-editing molecules to the liver. Cambridge-based Intellia, meanwhile, is exploring Crispr therapies for sickle-cell, haemophilia and some rare genetic heart conditions.

Yet another Cambridge-based gene-editing company, Editas, has begun a trial in collaboration with Dublin-based Allergan that uses Crispr to treat the most common form of inherited childhood blindness, called LCA10. Unlike the earlier sickle-cell and cancer treatments, this one introduces Crispr directly into the body in this case by injecting it, inside a virus, into the eye. The eye is a good target, Doudna says, because it has certain characteristics that make genome-editing less likely to have unwanted side-effects. Well learn a lot from this trial, she adds, and Im excited to see the results.

Murthy is working on a Crispr treatment for Duchenne muscular dystrophy, one of the most common and severe forms. It is caused by mutations of a gene that produces dystrophin, which is involved in building muscles, and results in the wasting away of muscle fibres, leading to disability and death. But he suspects that Crispr therapy may first see wide clinical use for neurological genetic conditions such as Huntingtons disease, because brain tissue turns out to be easier to edit than muscle.

Treating different diseases might demand different kinds of gene-editing. The simplest approach is to just mess up a gene so it doesnt work. When Cas9 snips a DNA strand, the cells DNA-repair machinery doesnt just stitch it together again; typically it shaves a bit off the strands, as if cleaning up the ragged ends. The rejoined gene is then generally useless and sometimes thats all you need. Some editing jobs call for a more precise molecular scalpel, however.

For most genetic diseases, precise gene correction, rather than disruption, is needed to benefit patients, says David Liu of the Broad Institute of the Massachusetts Institute of Technology and Harvard University. Over the past few years, he has developed a way of using Cas9 to make precise changes to just a single one of the molecular units called bases that encode genetic information. Sometimes, as in sickle-cell disease, thats all it takes to make a mutation dangerous. Lius so-called base editors use a modified version of Cas9 that can target DNA in a programmed way but doesnt cut it, in conjunction with other molecules that then swap a single base at the target site.

Liu and his colleagues are using their base editors to treat a devastating condition called progeria, which causes very rapid ageing and eventually death in children born with a mutation to a gene called lamin A. This too is caused by a single base change, but the mutant protein it produces can damage nearly all the cells in the body. Its not enough to just damage mutant lamin A, since the uncontrolled mixture of products that results could still be lethally toxic. You need instead to precisely correct the lone rogue base.

Lius team has done this in mice genetically altered to carry the human form of mutant lamin A. They treated the animals 14 days after birth equivalent to about age five in humans and found that the mice lived until the beginning of old age for normal mice. As we realised the extent of the disease rescue was well beyond what had been achieved before, we started freaking out, says Liu.

Five years ago, the prospect of correcting a single base pair in a living animal that causes a fatal genetic disease, with a one-time treatment of an engineered molecular machine, seemed like science fiction, he says. His team is now working with Beam Therapeutics (also in Cambridge, MA) and with Verve in Cambridge to develop these tools for clinical applications in humans; Verve is using base editors for its work on atherosclerosis.

Although Murthy says that widespread clinical use of Crispr therapies is still five to 10 years down the line, Doudna admits to being constantly amazed at how quickly Crispr genome-editing has been adopted by researchers around the world. Usually, clinical trials can take a long time, she says. So the fact that, thanks to Crispr, we have people today who appear to be cured of sickle-cell disease is surprising in the best way.

This article was amended on 23 February 2021 to clarify that the guide molecule for Crispr is simply RNA rather than mRNA.

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After the Nobel, what next for Crispr gene-editing therapies? - The Guardian

Lucky winner! Rs 16 crore lottery gives new lease of life to 14-month-old Fatima – Zee Business

Fourteen-month old Fatima who was suffering from a killer disease has got a new lease of life after USD 2.1 mn treatment at Bengaluru hospital. Fatima faced a bleak future afflicted with a killer muscular disorder, but a Rs 16 crore 'revolutionary' gene therapy she underwent at a city hospital after winning a 'lottery' has given her a new lease of life.

Fatima, daughter of Mohammed Basil and Khadija from Bhatkal town in the coastal Uttara Kannada district in Karnataka, is recovering after she was given 'Zolgensma', the gene therapy at Bangalore Baptist Hospital late last month, as per a report in PTI.

She emerged "a lucky winner of a lottery" through a compassionate access programme by drug major Novartis that helped her get the costly treatment, affordable only by multi-millionaires, the hospital said.

Rs. 16 crore: Cost of injection

"The cost of this medicine is about 2.1 million US dollars, which is roughly about Rs. 16 crore," hospital Director (CEO) Naveen Thomas said. "There is gradual improvement. She is now able to move her leg. It will take time to become like a normal child," her father Basil said, as per a report in PTI.

Spinal Muscular Atrophy or SMA

The toddler was diagnosed with Spinal Muscular Atrophy or SMA, a disease caused by loss of nerve cells, which carry electrical signals from the brain to the muscles.

The protein needed for this signaling is coded by a gene for which everyone has two copies --- one from the mother and the other from the father, according to Thomas.

He said a child develops this disorder only if both the copies were faulty and without treatment, this disease was ultimately fatal. But the problem is that the treatment is out of reach of most people. "Only multi-millionaires can afford it! Current treatment options range from medicines, which increase these proteins to replacing the faulty gene. Zolgensma, a gene therapy is a revolutionary treatment, which aims at curing the disease by replacing the faulty gene", he said.

"For the first time in Karnataka, Zolgensma was given at Bangalore Baptist hospital to a child who was the lucky winner of a lottery through a compassionate access programme by Novartis", Thomas said.Incidentally, the couple had earlier lost a child, who was also suffering from SMA.

"On the 21st day of the 21st year of the 21st century, the baby was given the injection, which is a one-shot cure for this rare disease, said Dr Ann Agnes Mathew, Consultant Paediatric Neurologist and Neuromuscular Specialist.

At present there were about 200 children getting treatment in the Baptist Hospital which is specialised in genetic diseases, more specifically SMA and Duchenne muscular dystrophy (DMD), said the doctor.She added that previous year alone, 38 children who were getting treatment in the hospital breathed their last in the absence of this expensive treatment.

In Fatima's case, Thomas said: It is a dream come true for doctors in this field. We hope more children receive this treatment and many such treatments will become affordable in the future."

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Lucky winner! Rs 16 crore lottery gives new lease of life to 14-month-old Fatima - Zee Business

14 Emerging Tech Trends for 2021and Dallas-Area Companies That Are Innovating for the Future Dallas Innovates – dallasinnovates.com

Tech is booming, big-time. We saw its strength reflected in the stock market in 2020, despite a global pandemic. In a world gone virtual, it was a lifeline for businesses and people alike.

Seemingly overnight, COVID-19 disrupted our assumptions and forced us to become more adaptable and responsive than we had previously thought possible. Comfortable plans for the future were condensed from years into weeks, said Bill Briggs, the global chief technology officer of Deloitte Consulting, of the acceleration of digital transformation last year. While the growth was uncomfortable at best, its driven important change.

We know the future will look vastly different from today, and technology is a critical path to our tomorrow. As our next normal plays out, emerging tech will continue to reshape how we live and work. In Dallas-Fort Worth, organizations large and small are working to meet new needs and identify rising opportunities.

Heres a look at 14 major trends and some of the key players leading the innovation charge in the region.

[Image: 3disometric/iStockphoto]

Intelligent machines and smart data can transform our world. This tech trioartificial intelligence, machine learning, and data analyticsis the glue behind other trends on our list. Separately and together, they play a role in everything from public safety (Tyler Technologies) to financial services (Capital One, Goldman Sachs, JP Morgan, to name a few). Deloitte, in its 12th annual tech trends report, calls data the art of the possible. Human capacity can be augmented at scale if enterprises can move toward automation and machine-led decision making, the consultancy says. In healthcare, Pieces Technologya startup launched in 2016, spun out of Dallas Parkland Health and Hospital Systemuses cloud-based AI with natural language processing and doctor-supervised machine learning to interpret patient information to support healthier outcomes. Dallas-based Worlds, which emerged from stealth last year, announced a COVID breath-testing device using AI and high-tech sensors that provides nearly instant results. The device could have application for other outbreaks and diseases well beyond Covid-19. Texas-based Hypergiant Industries, with offices in Dallas and Austin, is launching a constellation of satellites with the United State Air Force that can update, collect, and share data in spaceon the fly. For networking and resources in these specialized fields, a local meetup group, WiMLDS, supports and promotes women and gender minorities.

[Image: istockphoto]

IoT, another synergistic cluster of technologies driven by 5G and fueled by data, is ushering in Industry 4.0. An ever-growing number of connected devices make our homes comfortable (Honeywell) and track assets across the globe (Polte). IoT and sensor-based tech has applications in every sector: industrial, healthcare, real estate, and more, according to Cisco, which offers services including remote monitoring with Industrial Asset Vision. AT&T and Microsoft also teamed on an IoT guardian device that connects to the cloudbypassing public internet. IoT Texas, a monthly meetup run by Ed Hightower, recently hosted Taubyte, which emerged from stealth with its smart computing platform.

[Photo: Rawf8/istockphoto]

Hailed as the connectivity of the future, 5G brings speed and capabilities that will boost other technologies including AI and IoT. The orders-of-magnitude performance boost that 5G promises doesnt happen very often, according to a Deloitte report last year. In DFW, youll find major players like AT&T, Verizon, and T-Mobile investing in the technology. Huawei notes 5G makes possible zero-distance computing. Earlier this year, networking pioneer DZS moved from Oakland to Plano, launching a new 5G R&D center. Ericsson also built the countrys first 5G smart factory in Lewisville, producing its first base stations that enable rapid 5G deployments. And in May, Nokia said it achieved world-record 5G speeds in its local lab.

Image: Zapp2Photo via iStock

Banking isnt the only industry that could be transformed by distributed ledger tech, according to CB Insights: Watch for law enforcement, rideshare, insurance, and gaming to be impacted. Beyond its beginnings in cryptocurrency, a virtual ledger is a secure way to store, authenticate, and protect data. This year, Dallas DLT startup Hedera Hashgraph and The Coupon Bureau took the more-than-century-old coupon industry into the digital age by creating universal digital coupons. Another startup, GreenLight Credentials, was chosen to provide its blockchain platform to the Texas College Bridge. Now more than 6,000 students will be able to electronically share records directly with colleges. In cryptocurrency, Dallas startup Zabo builds tech to help financial services companiesbanks, brokerage firms, fintechsconnect to customers crypto wallets.

[Illustration: Selim Dnmez/iStock]

Experimentation that might be too expensive (or risky) in the real world is made possible by digital twin technology that creates a digital copy of a physical object, process, or environment. This year, Jacobs created a twin of a water reclamation plant in Singapore in an R&D project, and River Logic used its supply chain tech to create a twin of multinational tobacco company Philip Morris Internationals global manufacturing footprint. UTD also formed the Digital Twin Health AI Consortium with plans to advance precision medicine. In Fort Worth, Bell opened its new Manufacturing Technology Center. The MTC, a proving ground for Future Vertical Lift aircraft, will twin itself to communicate operational details about its equipment and processes. In Plano, Siemens PMS, which announced a partnership with Team Penske to support its IndyCar series in 2018, has created digital twins of race cars allowing engineers to try out design concepts virtually to streamline designs and speed results

[Illustration: bestbrk/istockphoto]

CRISPR has revolutionized life sciences. Gene editing and genomic breakthroughs coupled with artificial intelligence could change the face of healthcare. At the North Texas Genome Center in Arlington, scientists are unlocking human DNA through genome sequencing to create databases that would inform doctors of the right care approach. During the pandemic, the center has used its testing capabilities to run up to 500 COVID tests a day to serve the campus and community. In Bedford, Nanoscope Therapeutics is advancing gene therapy using light-sensitive molecules and light-assisted gene delivery. Its mission? Giving sight to the blind. In Irving, Caris Life Sciences tech developed a Genomic Profiling Similarity Score to compare molecular characteristics of a patients tumor against Caris extensive database. Caris profiling tool for tumors uses over 6,500 mathematical models in a machine-learning algorithm. Bio North Texas, a Dallas Innovates partner organization, is a hub for connections and resources in life sciences. The nonprofit organization hosts an annual event each fall, the iC3 Life Sciences Summit.

[Image: IgorKirillov via istockphoto]

The field of smart voice, speech, and language processing lets machines recognize human language. From chatbots to Alexa and Siri, its been a game changer for how businesses interact with customers. Next-gen NLP is now being used in industrial IoT. North Texas startups are using the tech for myriad solutions: Illuma Labs offers real-time voice authentication, Briocare helps seniors age in place with the assistance of smart voice tech, and woman-owned SalesBoost uses patented voice tech to train teams with on-demand learning. Enterprises like Toyota see an application for the future of mobility, employing engineers who design, develop, and test voice recognition solutions.

[Photo: metamorworks/istockphoto]

Autonomous vehiclescars, trucks, aircraftare on the way to commercial viability. In DFW, companies in the space range from Toyota to Bell to Waymo. Autonomous activity is coming, says Hillwoods Bill Burton, and DFW is well suited to benefit from it. Driverless tech startup TuSimple recently expanded into AllianceTexas Mobility Innovation Zone. Earlier this month, Hillwood and Bell completed the first point-to-point unmanned aircraft delivery in North Texasshowing the future capabilities of commercial operations. In Dallas, FusionFlight had the first successful flight of its small-but-powerful autonomous drone with vertical take-off and landing called JetQuad, after three years of extensive development.

[Image: WhataWin/istockphoto]

Protecting computers from theft or damage to electronic data, software, or hardware became even more important in 2020 as work-from-home accelerated use of the cloud, which boosts file sharing and potential cyber-attacks. Trend Micro, a Japanese firm with its U.S. headquarters in Dallas, recently announced the worlds first security tool for cloud-native file storage. Other local firms include CRITICALSTART, HCL Technologies, QED Secure Solutions, and Jacobs. In education, UTD and SMU offer masters degrees and cutting-edge intel on stopping cyber threats.

[Photo: metamorworks via iStock]

AI tech allows computers to understand and tag images, including individual faces. Its now used in driverless cars, fintech, retail, medical diagnostics, agriculture, and more. NEC, a Japanese company with its U.S. headquarters in Irving, is an industry leader in advanced recognition systems for retail, government, and travel. Others, such as Omnigo Software, provide facial recognition for police and schools. UTD is pioneering research on racial bias in the technology. Local meetup Amplified Vision shares and creates computer vision projects.

The University of Texas at Arlington has awarded four research grants. Shown is the Buddy social robot. Photo Courtesy University of Texas at Arlington

Cobotscollaborative robots, designed to work with humans in shared spacesand robots, often used in industrial settings, are multiplying thanks in part to the pandemic. Locally, APS uses cobots to clean floors and sanitize offices. Hilti built the ceiling-hole-drilling Jaibot, and RoboKinds robots help children with autism. AT&T worked with San Antonio-based Xenex on germ-zapping robots for hospitals. Richland Hills startup MZ Motion is poised to provide some of the mechanical makings to collaborative robotics with its patented motion systems. In education, UT Arlington Research Institutes Automation and Intelligent Systems efforts focus on advanced robotics, while UTD uses robots to deliver food.

[Image: KrulUA via iStock]

Coming on strong is robotic process automation, which uses computer software robots to do mundane and repetitive digital tasks to free up employees for more complex work. Its used in many industries, including financial services, healthcare, and telecom. Plano-based ABIA uses RPA to streamline workflows. Its automation anywhere provides AI-enhanced RPA solutions. Startup Ant Brains created Krista, a conversational intelligent process RPA platform, for identity management, and more. This year, Dallas-based EPSoft RPA was used to improve COVID-related safety in the workplace.

[Illustration: DKosig/istockphoto]

Quantum computers use the principles of quantum theory to solve complex computational problems. Atos, a French company with its U.S. headquarters in Irving, is a global pioneer in building Quantum Learning Machines for commercial purposes, such as portfolio management and logistics. In education, SMU recently received a $1 million grant to advance quantum-related cybersecurity devices. A team at UT Dallas just developed a technique for atomically precise manufacturing (APM) of silicon quantum devices to scale production. Richardson-based Zyvex Labs also focuses on APM. Quantum computing has game-changing implications for cybersecurity, as well:Math will no longer protect your data, said cyber threat expert Doug Peckover, who is now co-founder of Kloke.ai, in a previous interview. Encryption that would normally take millions of years to crack could be done in seconds with a quantum computer, he said.

Adaptive3D focuses on creating strain-tolerant materials used for additive manufacturing. [Photo: Courtesy Adaptive3D]

Nanotechnology is the use of matter on an atomic or molecular scale for medical or industrial purposes. In 2020, Orthofix Medical got FDA clearance for its 3D-printed bone screw that uses a nano-surface to stabilize the joint. Coppell-based Peak Nanosystems, which closed a $25 million Series C this year, plans to expand the development of its nanolayered film used in optical lenses. OncoNano develops nanotech-enabled fluorescent probes for cancer surgery. UNT and UTA offer degrees in materials science and engineering. Alpine Advanced Materials offers a lightweight alternative to aluminum for aviation and other industries.

WHAT ARE YOU INNOVATING? Let us know.

A version of this story was originally published in Dallas Innovates 2021: The Resilience Issue.

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North Texas research universities will offer their expertise in artificial intelligence, composite materials, wireless vehicle tech, IOT, big data, and more. Under the umbrella of the Texas Research Association, the new center aims to solve mobility challenges faced by industry, nonprofits, municipalities, and transportation agencieshere and beyond.

The collective strength of the innovation ecosystem and intellectual capital in Dallas-Fort Worth is a force to be reckoned with.

There are plenty of things to do withyourphysically distanced time. Here are a few from our curated selection.

From Amazon hiring in Oak Cliff to great places to work in DFW and Texas, here are our 10 most-read stories in May.

In the fourth installment of a five-part series, Capital One shines a spotlight on nonprofit innovation in 2020.

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14 Emerging Tech Trends for 2021and Dallas-Area Companies That Are Innovating for the Future Dallas Innovates - dallasinnovates.com

Gene Therapy – Cleveland Clinic

Overview What is gene therapy?

Gene therapy is an experimental treatment using genetic material to treat or prevent certain diseases. While not yet widely available, gene therapy may one day help doctors treat diseases by directly replacing the disease-causing gene.

Clinical trials are investigating gene therapy for the treatment of cancer, age-related macular degeneration and other eye diseases, certain genetic conditions and HIV/AIDS. Currently, one gene therapy medication, Luxturna, has been approved by the U.S. Food and Drug Administration (FDA) for use in the United States. Luxturna treats certain inherited retinal (eye) diseases.

Gene therapy works by replacing or inactivating disease-causing genes. In some cases, gene therapy introduces new genes into the body to treat a specific disease.

With gene therapy, doctors deliver a healthy copy of a gene to cells inside the body. This healthy gene may replace a damaged (mutated) gene, inactivate a mutated gene or introduce an entirely new gene.

Carriers, called vectors, transport these healthy genes into cells. In most cases, the vectors are modified viruses that do not cause disease. Vectors may also be certain types of bacteria or circular DNA molecules (plasmid DNA). Additional methods to package and deliver genetic material are also being actively investigated, such as the use of nanoparticles, encapsulating lipid molecules and the use of electric currents.

Injection or intravenous (IV) infusion introduces vectors into the body. In some cases, doctors collect cells from a patient, add vectors in a laboratory and return the vector-containing cells to the patients body through injection or IV infusion.

With the exception of Luxturna which has been FDA approved, doctors are still experimenting with gene therapy. The long-term safety of such treatments has yet to be determined. Some gene therapies appear to be effective in curing certain conditions. But there is not enough evidence about gene therapy as a whole to determine all the possible risks.

Some gene therapy research indicates gene therapy may worsen symptoms or cause them to last longer. Additionally, complications of certain gene therapies may include cancer, toxicity and inflammation.

Your recovery depends on which medical condition gene therapy treats. Complications can be serious and can affect your outcome.

Researchers are investigating gene therapy to treat cancer, eye diseases, some genetic conditions and HIV/AIDS. If you are interested in participating in a clinical trial involving gene therapy, speak with your doctor. Your doctor can help determine whether gene therapy might treat your condition.

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Gene Therapy - Cleveland Clinic

14-month-old lottery winner with killer disease gets new life after expensive therapy in Bengaluru – India Today

Fourteen-month-old Fatima, who was afflicted with a killer muscular disorder, is now blessed with a new lease of life after she underwent a Rs 16 crore 'revolutionary' gene therapy at a Bengaluru hospital after winning a 'lottery'.

Fatima, daughter of Mohammed Basil and Khadija from Bhatkal town in Uttara Kannada district of Karnataka, is recovering after she was given 'Zolgensma' -- the gene therapy -- at Bangalore Baptist Hospital late last month, news agency PTI reported.

She emerged "a lucky winner of a lottery" through a compassionate access programme by drug major Novartis that helped her get the treatment which is affordable only by multi-millionaires, PTI quoted hospital authorities as saying.

"The cost of this medicine is about 2.1 million US dollars, which is roughly about Rs. 16 crore," hospital Director (CEO) Naveen Thomas said.

"There is gradual improvement. She is now able to move her leg. It will take time to become like a normal child," her father Basil told PTI.

The toddler was diagnosed with Spinal Muscular Atrophy or SMA, a disease caused by loss of nerve cells, which carry electrical signals from the brain to the muscles.

The protein needed for this signaling is coded by a gene for which everyone has two copies --- one from the mother and the other from the father, according to Thomas.

Thomas said a child develops this disorder only if both the copies were faulty and without treatment, this disease was ultimately fatal.

But the problem is that the treatment is out of reach of most people.

"Only multi-millionaires can afford it! Current treatment options range from medicines, which increase these proteins to replacing the faulty gene. Zolgensma, a gene therapy is a revolutionary treatment, which aims at curing the disease by replacing the faulty gene", he said.

"For the first time in Karnataka, Zolgensma was given at Bangalore Baptist hospital to a child who was the lucky winner of a lottery through a compassionate access programme by Novartis", Thomas said.

Incidentally, the couple had earlier lost a child, who was also suffering from SMA.

"On the 21st day of the 21st year of the 21st century, the baby was given the injection, which is a one-shot cure for this rare disease, said Dr Ann Agnes Mathew, Consultant Paediatric Neurologist and Neuromuscular Specialist.

At present there were about 200 children getting treatment in the Baptist Hospital which is specialised in genetic diseases, more specifically SMA and Duchenne muscular dystrophy (DMD), said the doctor.

She added that previous year alone, 38 children who were getting treatment in the hospital breathed their last in the absence of this expensive treatment.

In Fatima's case, Thomas said: It is a dream come true for doctors in this field. We hope more children receive this treatment and many such treatments will become affordable in the future."

(With inputs from PTI)

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14-month-old lottery winner with killer disease gets new life after expensive therapy in Bengaluru - India Today

16 crore drug is the hope for SMA patients – The Hindu

A gene therapy costing 16 crore is the only shot of life for nearly 200 children with Spinal Muscular Atrophy (SMA) Type 1, a rare genetic disease, in Karnataka.

Last month, the therapy Zolgensma was offered free to a 14-month-old baby from Bhatkal (Uttara Kannada) who was the lucky winner of a lottery through a compassionate access programme by Novartis, the Swiss drugmaker. This lottery is held once in two weeks for SMA children across the world and doctors at Baptist Hospital, that has a dedicated Paediatric Neuromuscular Service, are hoping more children will benefit.

The therapy is a one-time infusion that takes about an hour, Ann Agnes Mathew, Consultant Paediatric Neurologist and Neuromascular Specialist, at Baptist Hospital told The Hindu. The therapy was approved by U.S. regulators in May 2019 and has since then turned into a miracle drug for this rare disorder that destroys a babys muscle control.

SMA is a disease caused by loss of nerve cells, which carry electrical signals from the brain to the muscles. The protein needed for this signalling is coded by a gene for which everyone has two copies - one from the mother and the other from the father. A child develops this disorder only if both the copies are faulty. Without treatment, this disease is ultimately fatal, said Dr. Mathew. The disease as it progresses, makes it extremely difficult for the babies to carry out basic activities like sitting up, lifting their head or swallowing milk.

Pointing out that the current treatment options range from medicines, which increase these proteins, to replacing the faulty gene, the doctor said, Zolgensma is a revolutionary treatment, which works by supplying a healthy copy of the faulty gene, which allows nerve cells to then start producing the needed protein. That halts deterioration of the nerve cells and allows the baby to develop more normally.

The drug has a 14-day shelf life and when it was sent from U.S. for the Bhatkal baby, it was stuck with customs for three days in mid-January making doctors jittery. Dr. Mathew said she had to personally meet the Customs officials to get it released. When we explained the situation to them, they immediately released it. Any further delay would have been risky. The parents have taken a house on rent and are staying near the hospital for follow up. The baby is doing fine now, she said.

Pointing out that 38 babies had succumbed to the rare disease in Karnataka in over one-and-a-half years, Dr. Mathew said most families have given up hope as they cannot afford the treatment.

The Paediatric Neuromuscular Service at Baptist Hospital is a pioneering centre in the country with a multidisciplinary team of a paediatric neurologist, paediatric neuromuscular specialist, paediatric geneticist, paediatric pulmonologist, paediatric intensivist, paediatric cardiologist and paediatric endocrinologist providing comprehensive care under one roof. This service is run in collaboration with Organisation for Rare Diseases India, a NGO.

A Bengaluru-based couple - Naveen Kumar and Jyothi - have taken to crowdfunding on ImpactGuru.com, a crowdfunding platform, to cover the cost of Zolgensma therapy for their 10-month-old baby Janish who was diagnosed with SMA.

Mr. Kumar, who works as an insurance surveyor and barely earns 30,000 a month, cannot afford the expensive treatment.

The couple were counting their babys milestones after his birth in February 2020. They caught his first smile and his first laugh but baby Janish never went past his first two milestones. The parents then rushed him to a pediatrician and from there the baby was referred to Baptist Hospital, said Dr. Ann Agnes Mathew, who has been treating the baby for the last five months.

Piyush Jain, co-founder and CEO, ImpactGuru.com, said over 22 lakh has been raised so far for baby Janish from over 1,500 donors.

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The First Gene Based Project to be conducted in the Rio Grande Valley – Mega Doctor News

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Mega Doctor NEWS

Edinburg, TX Can a medical tool predict the risk of certain medications based on a patients genetics, and, if so, could this information lead to doctors customizing a patients drug therapy? The tool being studied at DHR Health Institute for Research & Development to answer these questions is Cipheromes Xentinel Lighthouse, and this pilot study will also evaluate the resulting savings in health-care costs.

After a stroke or heart attack, the standard treatment is Percutaneous Coronary Intervention (PCI), or stent placement. A stent opens blood vessels in the heart that have narrowed due to the buildup of plaque. Following PCI, doctors typically prescribe aspirin and a P2Y12 inhibitor, such as clopidogrel (Plavix), to reduce the risk of stent thrombosis, which is the formation of a blood clot on the surface of the stent.

Lighthouse is a support tool that allows physicians to predict how a patient will respond to drug therapies based on that patients genetic makeup. Cipherome, Inc. chose South Texas for this pilot project to better understand how the genetic differences in Hispanic/Latino patients relate to the effectiveness and safety of medications used to treat them.

Most prior studies to anticipate major bleeding caused by this drug therapy have been based on data collected from Caucasian patients, have not been based on apatients individual risk profile, and have not been strong predictors of thrombosis risk, says Dr. Herschl Silberman, a cardiologist at DHR Health and a Clinical Research Scientist, DHR Health Institute for Research & Development. This lack of effective clinical tools has resulted in high numbers of emergency room visits and patients being readmitted to the hospital with stent thrombosis, bleeding, and other complications.

In 2019 alone, over 1.5 million patients visited an emergency room or were hospitalized due to unexpected reactions to drug therapies, and 174,000 people in the U.S. lost their lives due to these adverse reactions. Recent studies show the possibility of an 80-percent reduction in PCI 90-day complications by using a patients personalized genetic information.

Personalized medicine brings great promise to improve outcomes for our patients and we are focused on pioneering innovative practical solutions that can produce better results for our clinicians and patients, says Dr. Sohail Rao, CEO of DHR Health Institute of Research and Development (DHR IRD). DHR IRDs credibility and service to the large Hispanic population in South Texas is the ideal place for our first deployment of clinical decision support systems, says Ilsong Lee, Cipherome CEO.

This study is open to patients 18 years of age and older who have been prescribed clopidogrel, prasugrel (Effient), or ticagrelor (Brilinta) after a PCI with at least one stent placement. There are two study arms, or groups, one receiving clopidogrel but no genotyping to identify the patients genetic makeup and the other receiving genotype-guided therapy. Patients in the study will be evaluated for a period of one year.

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The First Gene Based Project to be conducted in the Rio Grande Valley - Mega Doctor News

Spondyloarthritis: Types, symptoms, treatment, and more – Medical News Today

Spondyloarthritis is an umbrella term that describes different types of arthritis. These types mainly affect the spine, but they can also cause symptoms in other parts of the body.

There has been some debate about whether spondyloarthritis is an autoimmune condition or an autoinflammatory condition. However, recent research suggests that spondyloarthritis is indeed an autoimmune condition.

This article will explore spondyloarthritis in detail. Specifically, it will examine the different types, symptoms, and treatment options associated with the condition.

There are several subtypes of spondyloarthritis. Each can involve a different part of the body.

The following sections will look at some of these types in more detail.

Ankylosing spondylitis is the most common form of spondyloarthritis. It involves ligaments, tendons, and joint capsules attaching to bones in the spine and peripheral joints.

It can cause the bones in the spine to fuse together, leading to stiffness and immobility.

Learn more about ankylosing spondylitis here.

This type of spondyloarthritis primarily involves the joints in the spine and pelvis.

Axial spondyloarthritis causes back pain and affects around 5.5 million people in the United States.

Like axial spondyloarthritis, the non-radiographic form also affects the spine and causes lower back pain.

However, the effects of non-radiographic spondyloarthritis are not visible on X-rays. They are only visible on more sensitive imaging tests, such as MRI scans.

Peripheral spondyloarthritis describes a number of spondyloarthritis subsets.

It mainly affects the hands and feet. However, it can also cause inflammation in the:

Both rheumatoid arthritis and spondyloarthritis are very common. Although they share some similarities, the conditions also have significant differences.

Spondyloarthritis tends to be more common in males, whereas rheumatoid arthritis is more common in females.

Rheumatoid arthritis symptoms typically start appearing when a person is around 4050 years of age. The symptoms of spondyloarthritis usually occur earlier than this.

The early symptoms of rheumatoid arthritis usually affect the hands and feet. The early symptoms of spondyloarthritis usually start with back pain.

Learn more about the early signs and symptoms of rheumatoid arthritis here.

People often develop spondyloarthritis in their teenage years or 20s. Those with the following characteristics may be more likely to experience spondyloarthritis:

It is important to note that spondyloarthritis is notoriously difficult to diagnose in females. This could mean that it is more common in females than some statistics may show.

Lower back or hip pain is a common early symptom. However, symptoms can vary depending on the type of spondyloarthritis a person has.

Inflammation elsewhere in the body is a symptom of spondyloarthritis. It can especially affect the:

Spondyloarthritis-related inflammation can cause:

Another symptom of spondyloarthritis and the swelling it causes is psoriatic rashes. These may appear differently depending on a persons skin color.

Learn more about psoriasis on black skin here.

These symptoms may be particularly painful first thing in the morning or after periods of rest.

Untreated spondyloarthritis could lead to a person developing the following conditions:

A person who is experiencing symptoms of spondyloarthritis should contact a doctor to treat the condition. This may help prevent these complications.

If a person has had chronic lower back pain since before the age of 40 years, they may have spondyloarthritis. People often assume that they simply have back pain due to poor posture or other mechanical issues.

Because the pain can come and go, some people may assume that the pain is not important. However, not seeking treatment for spondyloarthritis can lead to complications later on.

A person who suspects that they have spondyloarthritis should contact a doctor. They should provide the doctor with details about their pain onset and whether or not they have other inflammatory symptoms that might suggest the presence of spondyloarthritis.

A doctor will diagnose spondyloarthritis by taking a persons medical history and performing a physical exam.

Imaging can help confirm a diagnosis. The doctor may request an MRI scan if an X-ray does not show damage but a person has symptoms that suggest the presence of spondyloarthritis.

A blood test is also available for the HLA-B27 gene, which is a gene associated with the condition. However, testing positive for the gene does not necessarily mean that a person has spondyloarthritis.

The doctor can also perform ESR tests or CRP tests on the blood in order to determine if swelling is present in the body. This can also help diagnose spondyloarthritis.

The doctor may also choose to carry out a complete blood count, to diagnose anemia, or a metabolic panel, to analyze a persons kidney and liver function.

Sometimes, medical professionals can mistake spondyloarthritis for other similar conditions, which can delay diagnosis and treatment. This is especially the case among females.

There is currently no cure for this condition. However, treatment can help relieve the symptoms and slow the progress of the condition.

Some treatment options include:

Biologics are very effective but expensive. These drugs can also increase a persons risk of infection.

Also, physical therapy can help restore range of motion in the affected joints.

One 2020 study involved putting 100 people with axial spondyloarthritis, non-radiographic axial spondyloarthritis, or psoriatic arthritis with axial involvement on physical therapy treatment programs.

The therapy significantly improved the pain that the condition caused, including among those with secondary conditions such as fibromyalgia.

Occupational therapy can also help a person improve or maintain their ability to perform day-to-day activities. An occupational therapist can provide recommendations and assistive devices to help prevent further injury.

Living with spondyloarthritis can make performing certain everyday tasks more difficult, but it is possible to manage the symptoms. Also, the condition does not usually affect a persons life expectancy significantly.

Symptoms such as pain and fatigue may come and go, and treatments can help a person live with this condition.

Some behavioral changes can also make living with spondyloarthritis easier. These changes include:

There are also spondyloarthritis support groups available for people who may need additional support.

Not seeking treatment for spondyloarthritis can lead to complications. Joints can fuse, for example, which may cause severe stiffness or immobility.

The symptoms of spondyloarthritis can come and go. However, even if a person does not constantly experience symptoms, they should still contact a doctor.

Not seeking treatment can lead to more complications of the condition. For example, it could become increasingly painful.

With the right treatment, people with spondyloarthritis can live an active life. Although there is no way to cure the condition, it is possible to manage the symptoms and prevent disease progression.

Making certain behavioral changes and trying medical treatments can make the pain and inflammation of spondyloarthritis more manageable.

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Spondyloarthritis: Types, symptoms, treatment, and more - Medical News Today

MSI-High and Colon Cancer: What It Means, Treatment Options, and More – Healthline

Colon cancer, also called colorectal cancer, is an umbrella term for cancer that starts anywhere in the colon or rectum. The American Cancer Society estimates that there will be 104,270 new cases of colon cancer this year.

Some cases of colon cancer will be MSI-high, or MSI-H, which stands for microsatellite instability-high. It refers to a piece of genetic coding and means theres a lot of instability in the tumor.

Your MSI status gives your doctor an idea of how the cancer will behave. It can also help guide treatment decisions.

MSI-high colon cancer involves tumors with a high amount of instability. It occurs when mismatch repair (MMR) genes, whose job is to correct errors that happen during cell division, stop functioning properly.

When the MMR system is defective, it stops making repairs, allowing errors to accumulate. Thats how a tumor becomes highly unstable.

Doctors will use a tissue biopsy, usually following surgery, to test whether a tumor is MSI-high.

About 15 percent of colon cancer tumors are MSI-high, according to a 2016 study. About 3 percent of these are associated with a hereditary disorder called Lynch syndrome.

MSI-high cancer cells look and behave in an abnormal way. Thats not necessarily a bad thing when it comes to colon cancer, though.

While many cancer cells can easily hide from the immune system, MSI-high cancer cells stand out. That makes it easier for the immune system to recognize them as invaders. They also tend to respond well to treatment.

Treatment for colon cancer depends on several factors, such as the stage and location of the tumors. MSI status can play an important role in forming a treatment plan.

Here are some treatment options for colon cancer:

Surgery can remove many tumors in the colon.

In a procedure called segmental colectomy, the surgeon removes part of the colon, then attaches the ends together. In the early stages of colon cancer, surgery may be the only treatment you need.

Cancer that has spread to other organs or tissues can sometimes be surgically removed as well.

Regional and systemic chemotherapy can help shrink tumors and prevent cancer from spreading. It can be used alone or in combination with other treatments.

Chemotherapy drugs used to treat colon cancer include:

Immunotherapy is a promising treatment choice for many types of cancer. Its a way of strengthening your own immune system to fight cancer.

Three immune checkpoint inhibitors are approved to treat MSI-high metastatic colon cancer. Theyre all given through intravenous infusions.

Two of these drugs can only be used when cancer has progressed after treatment with certain chemotherapy drugs.

In 2017, the Food and Drug Administration (FDA) granted accelerated approval to nivolumab (Opdivo).

A year later, the agency granted accelerated approval to ipilimumab (Yervoy). This drug can only be used in combination with nivolumab, not by itself.

Theres also pembrolizumab (Keytruda). Its a first-line immunotherapy for metastatic MSI-high colon cancer. That means you dont have to try chemotherapy first. It was approved by the FDA in 2020.

In a clinical trial, researchers compared pembrolizumab to chemotherapy as a first-line therapy for MSI-high metastatic colon cancer. Pembrolizumab led to significantly longer progression-free survival. Trial participants who were treated with pembrolizumab also had fewer adverse events than those in the chemotherapy group.

Targeted therapies for colon cancer help prevent tumors from forming new blood vessels. These include:

Theyre administered intravenously, often in combination with chemotherapy.

Other drugs target epidermal growth factor receptor (EGFR), a protein that helps cancer grow. Some treatments include cetuximab (Erbitux) and panitumumab (Vectibix).

For cancer involving BRAF gene mutations, doctors may use targeted therapy drugs such as encorafenib (Braftovi) and regorafenib (Stivarga).

Radiation targets high-energy rays to a specific area of the body. This can help shrink tumors and kill cancer cells.

Treatment options for people with colon cancer have changed a lot in recent years, and theres more to come.

Clinical trials help test innovative new therapies. Ask your doctor about clinical trials that may be a good fit for you.

According to the American Cancer Society, the 5-year relative survival rate for colon cancer is:

Keep in mind that these numbers are based on people diagnosed between 2010 and 2016. Thats before immunotherapies were approved to treat colon cancer. The outlook for people with the disease may be better today.

Outlook may be better in people with MSI-high colon cancer compared with MSI-low cancer. According to a 2018 study on 603 people who had surgery for colon cancer, those with MSI-high cancer had a slightly better survival rate.

While statistics can give you a sense of the outlook for people with colon cancer in general, your personal outlook can be different. It depends on a variety of factors, such as:

Your doctor can review your health history to give you a better idea of what to expect.

MSI stands for microsatellite instability. MSI-high is a subset of colon cancer in which the tumor cells have a lot of instability. These cancer cells look and behave in an abnormal way.

The striking abnormalities make it hard for cancer cells to hide from the immune system. In general, MSI-high colon cancers respond better to treatment than other colon cancers.

Within the last few years, three immunotherapy drugs were approved to treat metastatic MSI-high colon cancers.

Two are for use when cancer hasnt responded to chemotherapy.

The third, pembrolizumab, is now approved as a first-line treatment for metastatic MSI-high colon cancer.

Talk with your doctor to find out which MSI-high colon cancer treatment options are right for you.

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MSI-High and Colon Cancer: What It Means, Treatment Options, and More - Healthline

Targeted therapy for lung cancer: Side effects and more – Medical News Today

Targeted therapies are medications that block certain molecules that affect cancers ability to grow and spread. They are different from standard chemotherapy and have several potential benefits as a lung cancer treatment.

According to Dr. Timothy Byun, a hematologist and oncologist with the Center for Cancer Prevention and Treatment at St. Joseph Hospital in Orange County, CA, some Food and Drug Administration (FDA)-approved medications target specific genetic mutations that are responsible for lung cancer.

These drugs are often the therapy of choice for people with advanced stage non-small cell lung cancer (NSCLC), said Dr. Byun. NSCLC accounts for an estimated 84% of all lung cancer diagnoses, according to the American Cancer Society.

In general, targeted therapies have higher response rates and [a] longer duration of benefit compared [with] chemotherapy in these patient subsets, said Dr. Byun.

However, targeted therapies also have some potential drawbacks. Dr. Byun explained that, as with chemotherapy, a persons cancer may develop a resistance to these medications. A person may also develop some side effects from taking these medications.

There are several different targeted therapies for people with lung cancer. Individuals should talk with their doctor about which option is best for them.

Here are the most common mutations involved in lung cancer, the targeted therapies that treat them, and some potential side effects related to taking these medications.

Cancerous tumors need a steady blood supply to grow. Angiogenesis inhibitors are a type of long-term medication that targets the blood vessels supporting cancer cells. By blocking the growth of these blood vessels, this targeted treatment can slow or stop the growth of lung cancer.

A doctor is most likely to prescribe bevacizumab (Avastin) or ramucirumab (Cyramza) to treat lung cancer.

Side effects vary based on which part of the blood cells the medication targets. Some common side effects can include:

Serious side effects are more rare. These may include:

Epidermal growth factor receptor (EGFR) is a protein on the outside of cells that controls their growth and division. EGFR genetic mutations can cause too much EGFR to be present on cells, which causes cancer to grow faster.

EGFR mutations affect around 3745% of people with lung cancer who dont smoke and 714% of people with lung cancer who do smoke.

For advanced stage NSCLC with common EGFR mutations, EGFR targeted therapy such as osimertinib is the preferred first line of treatment, said Dr. Byun.

EGFR inhibitors block the signals from EGFR to prevent the growth and division of cancer cells.

Some common EGFR inhibitors for lung cancer include:

Some common side effects of EGFR inhibitors can include:

These side effects can be severe enough that doctors recommend that people stop taking EGFR inhibitors.

For example, said Dr. Byun, if a patient experiences a severe adverse reaction such as interstitial lung disease related to osimertinib, which occurs infrequently, then the medication is discontinued and the patient would be considered for chemotherapy.

According to one 2018 study, most people with lung cancer develop resistance to EGFR inhibitors. This is often because the cancer cells develop new EGFR mutations. One common mutation is called T790M.

Osimertinib (Tagrisso) is a drug that targets cells with the T790M mutation. Side effects of this drug are similar to those of other EGFR inhibitors.

Necitumumab (Portrazza) is an EGFR inhibitor that mimics immune system proteins.

A doctor will give the medication intravenously and will often prescribe it with chemotherapy for people with advanced squamous cell NSCLC. It can cause similar side effects to those of other EGFR inhibitors.

Anaplastic lymphoma kinase (ALK) is a protein that supports cell growth. Some people with lung cancer have a mutation in the ALK gene, which causes more ALK proteins to form. This drives cancer growth and spread.

ALK mutations occur in about 12% of people who dont smoke and 2% of people who currently or who used to smoke.

ALK inhibitors are medications that target cancers with the ALK mutation. Certain people can use them after or instead of chemotherapy.

Some examples of these drugs include:

It is possible to experience side effects from taking this drug, including:

Some more severe and rare side effects include:

The American Cancer Society estimate that 12% of NSCLC cases have a ROS1 mutation, which affects how cancer cells grow and spread.

According to one recent study, ROS1 inhibitors are a well-established targeted therapy for people with a type of NSCLC lung cancer known as adenocarcinoma. Adenocarcinoma accounts for 5060% of lung cancer in people who dont smoke.

If a doctor identifies a ROS1 mutation, they may prescribe one of the following medications:

People can use these medications instead of chemotherapy or when chemotherapy or other therapies stop working.

Some potential side effects may include:

More severe side effects may include:

About 12% of people with NSCLC develop RET gene mutations. These changes affect a protein involved in cell growth, and they often occur with other mutations. As a result, a doctor may prescribe RET-targeting medications with EGFR-targeting medications for the best effect against cancer.

Medications to target RET genes include selpercatinib (Retevmo) and pralsetinib (Gavreto).

Some common side effects can include:

More severe and rare side effects may include:

According to one 2015 study, changes in the mesenchymal-epithelial transition (MET) gene are present in about 5% of lung cancer cases. The MET gene creates the MET protein, which is involved in cell invasion, growth, migration, and metastasis.

Capmatinib (Tabrecta) is the first FDA-approved MET-targeting medication for treating metastatic NSCLC.

Researchers are currently studying many other types of MET-inhibitor, including emibetuzumab, tivantinib, cabozantiniband, and onartuzumab.

Some potential side effects of these drugs may include:

Rarely, these drugs can cause liver damage and swelling or scarring in the lungs.

Recent research suggests that very few people with NSCLC develop an NTRK gene change that can cause the cancer to grow and spread.

Doctors typically prescribe two medications for this mutation in people with advanced lung cancer: larotrectinib (Vitrakvi) and entrectinib (Rozlytrek). Both are typically given when the cancer does not respond to other treatments.

Some potential side effects include:

Some other, less common side effects include:

A number of different drugs provide targeted treatment for many people with lung cancer.

These medications work by honing in on certain mutations in genes involved in lung cancer and stopping the reproduction, growth, and spread of cancer cells.

People may use targeted therapies with, instead of, or following other cancer therapies, including chemotherapy.

Continue reading here:
Targeted therapy for lung cancer: Side effects and more - Medical News Today

Baby can be saved from rare genetic disorder – but sister, 5, will die of it – Metro.co.uk

Five-year-old Addy, left, and three-month-old Ollie, right, both have the same genetic condition (Facebook)

A family faces a desperate race to raise enough money for their son to have life-saving treatment for a rare disease that will kill his five year-old sister.

The Rasberrys, from the Woodlands, Texas, need help to raise $500,000 for three-month-old Ollie to have treatment on a fatal genetic condition that attacks the central nervous system.

Its what his sister, Addy, aged five, has been suffering with since the age two leaving her unable to move, talk or eat, reports KHOU.

Tragically Addy will tragically die of rare genetic disorder, Metachromatic Leukodystrophy (MLD), but there is still time to save her little brother, Addys family has said.

The childrens mother, Victoria, said: My soul is tired. You know? Im weary, but Im trying to fight the fight and do what I need to do to save his life.

I dont know whats worse I dont know if its watching your child decline and not knowing whats going on or having a child and knowing that they will decline.

Its (the money) overwhelming, is the biggest thing that comes to mind, because we just have so little time to raise so much money.

Victoria added that Addy developed normally until about 15 months of age and then all of a sudden she started having trouble walking.

They visited a doctor for help and it took a long nine months to get Addy a diagnosis of MLD. Thats when Victoria said she learned it may be too late for treatment to save Addy.

They basically told us to go home and spend as much time with her as possible, to go on our Make-A-Wish trip and just enjoy her, she said.

Within two months of her diagnosis, Addy lost the ability to speak, eat and hold her head up.

Theres a lot of grief for what wont be and what she cant do anymore, Victoria added.

Its may sadly be too late for Addy but its not too late for Ollie, who was diagnosed with MLD shortly after birth.

The condition effects around one in every 40,000 babies born each year and is a progressive disease that is passed onto children from their parents via a faulty gene.

Because Addy has the disease, Victoria and her husband Zack knew it was important to test Ollie.

Victoria said: I was devastated, and I knew that we had to act fast.

Now they have the diagnosis Victoria and Zack can focus on giving Ollie the chance of survival via treatment. There is no recognized cure for MLD but theres a gene therapy procedure that has been approved for commercial medical use in Europe that could help.

Victoria said with the recommendation from his doctors in the US, doctors in Italy have agreed to treat him, but treatment has to start before Ollie is six-months-old.

It also costs $500,000 and the family need to raise the cash within the next few weeks. So far they have managed to raise more than $44,000 but need help from members of the public if they are to reach their goal.

To help the Rasberry family pay for Ollies life-saving treatment,click here.

Get in touch with our news team by emailing us at webnews@metro.co.uk.

For more stories like this, check our news page.

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Baby can be saved from rare genetic disorder - but sister, 5, will die of it - Metro.co.uk

ALK Positive Lung Cancer: Life Expectancy, Survival, and More – Healthline

Lung cancer is one disease, but it comes in different forms.

Some lung cancers involve gene mutations that affect how quickly the cancer grows. The anaplastic lymphoma kinase (ALK) mutation is one of those gene changes.

Knowing whether your cancer is ALK positive can help your doctor figure out which treatments will work best against it and what outlook you may expect.

To learn your ALK status, your doctor will remove a sample of your cancer during a biopsy and test it. They will also look for other gene changes that are linked to lung cancer.

ALK is short for anaplastic lymphoma kinase. Its a mutation in the DNA of your lung cells that happens when two genes become fused, or stuck together.

When you have this mutation, your lung cells make too many copies of themselves. These cells are cancerous and can spread to other parts of your body.

About 5 percent of people with non-small cell lung cancer (NSCLC) have the ALK-positive kind. Its most commonly seen in people with the adenocarcinoma type of NSCLC.

About 72,000 people are diagnosed with ALK-positive lung cancer worldwide each year, according to the advocacy group ALK Positive.

ALK-positive lung cancer responds very well to a group of targeted drugs called ALK inhibitors. Chemotherapy and other drugs also work against this cancer.

However it often returns after treatment.

How long a person might live with ALK-positive lung cancer depends in part on its stage at diagnosis. In a 2018 study, people with stage 4 ALK-positive lung cancer lived for an average of nearly 7 years after their diagnosis.

Your type of treatment also matters. People in a 2019 study who took the targeted drug crizotinib (Xalkori) lived longer than those who received chemotherapy.

Your age might also affect your life expectancy, according to 2019 research. Younger people are often diagnosed at a later stage when their cancer is harder to treat. People ages 60 and over sometimes live longer because theyre diagnosed at an earlier stage.

Overall, people with early-stage non-small cell lung cancer are 61 percent as likely as those without cancer to still be alive 5 years later, according to the American Cancer Society. Once the cancer has spread to other organs, five-year survival drops to 6 percent.

Survival rates for ALK-positive lung cancer are slightly better than those for non-small cell lung cancer overall. The aforementioned 2018 study found that people with late-stage ALK-positive disease live for an average of nearly 7 years.

Symptoms might not appear until youve had the cancer for some time and it has spread from your lungs to other parts of your body.

The symptoms of ALK-positive lung cancer are the same as those of other types of lung cancer, including:

Having symptoms like these doesnt mean you have cancer. These types of symptoms are much more likely to be a less serious condition, such as an upper respiratory infection.

But sometimes lung cancer is missed in younger people and nonsmokers because it tends to be more common in older people who smoke. If your doctor cant find another reason for your symptoms, ask for more tests or get a second opinion.

The ALK mutation isnt inherited like the BRCA mutations that cause breast cancer. This gene change happens during your lifetime.

ALK-positive lung cancer is most common in women under age 50 who have never smoked, according to ALK Positive.

People with ALK-positive lung cancer have a gene change that affects the way their lung cells grow and divide.

This type of lung cancer used to be hard to treat, but today there are a group of targeted drugs that are very effective against it.

If youve tried a few different drugs and the treatment youre on is no longer keeping your cancer under control, ask your doctor if you can enroll in a clinical trial of a new therapy.

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ALK Positive Lung Cancer: Life Expectancy, Survival, and More - Healthline

Dr. William Kelley inducted into IAOTPs Hall of Fame – PRUnderground

Dr. William N. Kelley, MACP, MACR, Professor of Medicine at the University of Pennsylvania, was recently inducted into the International Association of Top Professionals (IAOTP) Hall of Fame.

Being selected by the International Association of Top Professionals is an esteemed honor, as only 20 IAOTP members are inducted each year into the exclusive Hall of Fame. These special honorees are distinguished by their longevity in their fields, the contributions they have made to society, and the impact they have had on their industries.

With over five decades of professional experience as an Educator, Physician Scientist, and Medical Doctor, Dr. Kelley has undoubtedly proven himself an extraordinary professional and an expert in medical research and education. Dr. Kelley is a dynamic, results-driven leader who has demonstrated success as one of the most respected doctors in America. In the early 1990s at PENN, Dr. Kelley, in his role as Dean of the Medical School and CEO of the Health System (the combination now known as PENN Medicine), began to build a broad research program focused on the creation of gene-based medicine and vaccines as a new method for preventing and curing human disease. While the road was a rocky one over the last three decades, he is proud to note that PENN Medicine is now the global leader in this new field. This includes the two recently FDA approved mRNA vaccines (Moderna and Biontech/Pfizer) to prevent COVID-19 which came from the PENN Medicine research laboratories of Doctors Katalin Kariko and Drew Weissman. He is noted for developing the first fully integrated university-based academic health system in the country at the University of Pennsylvania and expanding the Medical Centers regional footprint by acquiring hospitals and private practices, including Pennsylvania Hospital and Penn Presbyterian Medical Center. Dr. Kelleys impressive repertoire of roles has included Dean of the Perelman School of Medicine, CEO of the University of Pennsylvania Medical Center, and Founding CEO of the Penn Health System (now known as Penn Medicine).

Prior appointments included Professor of Medicine, Associate Professor of Biochemistry, and Chief of Rheumatic and Genetic Diseases at Duke University, followed by Professor of Biological Chemistry and Internal Medicine, and Chair of Internal Medicine with the Medical School at the University of Michigan in Ann Arbor.

Dr. Kelley was known for his breakthrough research and leadership of academic medical programs at Duke and the University of Michigan when he arrived at Penn. During Dr. Kelleys Tenure, the Perelman School became a research powerhouse moving the school into the top 3 rankings for NIH funding. There is now a Professorship named in his honor at the Perelman School of Medicine.

Dr. Kelley earned his Doctor of Medicine at Emory University in Atlanta, GA, in 1963 and subsequently served an internship and residency in Medicine at the Parkland Memorial Hospital in Dallas, TX. He completed his senior residency in Medicine at Massachusetts General Hospital in Boston. Dr. Kelleys other titles have included Clinical Associate in Human Biochemical Genetics with the National Institutes of Health, Educator to Fellow of Medicine at Harvard University, and Macy Faculty scholar at the University of Oxford in England. Later in his career, he received an honorary Master of Arts from the University of Pennsylvania.

The President of IAOTP, Stephanie Cirami, stated, Inducting Dr. Kelley into our Hall of Fame was an effortless decision for our panel to make. In addition to his long list of accomplishments and accolades, he is well regarded and well recognized in academic medicine. We are thrilled to honor him in this way and look forward to celebrating his success with him.

Throughout his illustrious career, Dr. Kelley has received many awards, accolades and has been recognized worldwide for his outstanding leadership and commitment to the profession. He will be honored at IAOTPs 2021 Annual Awards Gala, being held at the Plaza Hotel in NYC for his selection as Top Professor of the Year in Medicine for 2020; he will be inducted on stage at the ceremony for his appointment into the Hall of Fame. In 2018 he received the Albert Nelson Marquis Lifetime Achievement Award. In 2005, Dr. Kelley was presented with the Kober Medal by the Association of American Physicians and the Emory Medal in 2000 from his alma mater, Emory University. He was the recipient of the David E. Rogers Award from the Association of American Medical Colleges, the John Phillips Award of the American College of Physicians, the Gold Medal Award from the American College of Rheumatology, the Robert H. Williams Award from the Alliance for Academic Internal Medicine, and the National Medical Research Award from the National Health Council. Dr. Kelley has been featured in many magazines and publications, including Whos Who in America, Whos Who in Medicine and Healthcare, and Whos Who in the World.

Aside from his successful career, Dr. Kelley is a sought-after lecturer, speaker, and contributor to numerous professional journals and chapters to books. He was the co-inventor of a Viral-Mediated Gene Transfer System, now the most commonly used method today for in vivo gene therapy. Dr. Kelley founded and edited numerous early editions of Kelley and Firesteins Textbook of Rheumatology and Kelleys Textbook of Internal Medicine. He was also editor-in-chief for Essentials of Internal Medicine and co-editor of Arthritis Surgery and Emerging Policies for Bio-Medical Research. Dr. Kelley has served on the Board of Directors for many public companies such as Beckman Coulter, Inc. and Merck & Co., Inc, and has been involved with many committees and subcommittees with the National Institutes of Health. He is a member of the National Academy of Medicine, The American Academy of Arts & Sciences, and the American Philosophical Society.

Looking back, Dr. Kelley attributes his success to his perseverance, his education, his mentors as well as outstanding students and trainees he has had along the way. When not working, he enjoys traveling and spending time with his family. For the future, he hopes that his contributions will continue to improve human health worldwide.

For more information on Dr. Kelley please visit: http://www.iaotp.com

Watch his video: https://www.youtube.com/watch?v=6uhxBnYVY54

About IAOTP

The International Association of Top Professionals (IAOTP) is an international boutique networking organization that handpicks the worlds finest, most prestigious top professionals from different industries. These top professionals are given an opportunity to collaborate, share their ideas, be keynote speakers, and to help influence others in their fields. This organization is not a membership that anyone can join. You have to be asked by the President or be nominated by a distinguished honorary member after a brief interview.

IAOTPs experts have given thousands of top prestigious professionals around the world, the recognition and credibility that they deserve andhave helped in building their branding empires.IAOTP prides itself to bea one of a kind boutique networking organization that hand picks only the best of the best and creates a networking platform that connects and brings these top professionals to one place.

For More information on IAOTP please visit: http://www.iaotp.com

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Dr. William Kelley inducted into IAOTPs Hall of Fame - PRUnderground

Last Call with Jenna Balestrini, the WPI grad treating cancer with cell therapy – Worcester Mag

Sarah Connell Sanders| Correspondent

Jenna Balestrini is the Head of Strategy and Business Development for Precision Medicine and Cell Bioprocessing at Draper.

What is your connection to the city of Worcester?

Well, I love Worcester. I moved there to do my Ph.D. in 2003. I graduated with a Ph.D. from WPI in 2009. I have to say, those were six of the best years of my life. Worcester is such an amazing place and WPI is such a great school. I've always had a fondness for that city more than pretty much anywhere else I've lived. It's just a very special place filled with really great people.

I was hoping you could talk a bit about your career trajectory, particularly after you finished your Ph.D.

I went to WPI and worked for Kristen Billiar, who is the best advisor anyone could ever ask for. One of our focuses was to understand the environment in cells and around cells. Factors like breathing or stiffness can either stimulate cells or impact cells pathologically and create disease. Or, if you understand a cells environment, you can harness those signals and start to build therapies. You can get cells to make specific proteins and we looked at the fundamentals of that. From there, I did a postdoc in Toronto studying fibrosis with Boris Hinz. Then, I went to Yale and worked for Laura Niklason doing translational medicine work. All of this ties to understanding how we can direct regenerative medicine applications with cells by understanding the cues around them to make different therapies. In 2016, I was at the end of my postdoc and I was trying to think about what to do. I had wanted to be a professor for many years, but towards the end, I realized what I really wanted was to be more translational and be a little bit closer to where the patients and the action are. I had a friend that I met at WPI who recommended I speak to her uncle, Jeff Borenstein, at Draper. I'd never heard of Draper before and I didn't know much about the nonprofit world. He looked at my CV and said, "You know what, you'd actually make a really good fit here."

What can you tell me about Draper?

I came to Draper in 2016. As a nonprofit, Draper reinvests its profits into research. One of the manifestations of that are large internal awards called IRaD, which stands for Internal Research and Development. Within six months, I got an IRaD to build technologies to make the next generation of cell therapy. That project went from concept to commercial pretty quickly. I transitioned into being a business development lead and then the portfolio grew even more, mainly because I work with some really talented engineers, some of whom went to WPI. Ultimately, we partnered with Kite Therapeutics. So what that means is my career in cell therapy literally went from an idea scribbled on a napkin with a colleague, to overseeing a partnership with, in my opinion, one of the best cell therapy companies in the world in just a few years. I am in a completely different space than I ever would have imagined. I had no idea I'd ever go into business or cell therapy and I'm really pleased.

I suspect a lot of great ideas have started on napkins. I'm curious about just the term cell bioprocessing. Can you explain it for someone lacking a science background?

Basically, what we're trying to do is take cells from a patient and modify them to make those cells into therapies themselves. It's a really interesting way to enable a patient to heal themselves. We take your immune system cells and then we genetically modify them with equipment that we've made. The equipment separates the cells from your blood, and then we introduce genes that serve as a set of instructions for your immune system to attack something like cancer. Think of it like taking those cells from the patient, giving them some extra tools to make them "super-powered," to make them better at hunting down and identifying things like cancer, and then putting them back into the patient.

Sounds very futuristic.

So here's the thing, I don't know why this is, but most people don't realize that it's not 10 years from now. It's happening right now. Cell therapy is FDA approved. If you have certain types of leukemia or lymphoma, you can get cell therapy made from your cells to target and kill your cancer. And this is a curative solution. You can get a dose of these cells that have been modified to hunt the leukemia down, or lymphoma down, and then you are cured from that disease.

That's amazing.

We're living in an era where cancer is curable. But now, the thing is, can we take it further? You can identify a unique combination that separates out the thing you're trying to hunt down HIV, hepatitis. You can also use the same tools to rectify genetic diseases like sickle cell anemia or cystic fibrosis. It's just a faulty gene that you can replace, right? Those are the next steps.

What are your hopes for the future?

You know what? I would like people to get excited. Everything I just described is what's called autologous cell therapy we take cells from a patient and do all of this work and it's really expensive to do but the future is something called allogeneic cell therapy, where we can take the same tool to do genetic engineering or modification of cells and knock out all those individual components that make yourself uniquely identifiable to you. From that, you create a universal donor. And you can use that as a starting material to make therapies for everyone. So what that means for you as a patient is that you could come into your doctor's office and find out you have something, let's just say a cancer, and you'll have an off-the-shelf ready-to-go therapy that day, frozen and ready to go for you. I don't think that chemotherapy and radiation are going to last much longer in terms of what the first line of defense is going to be. And they're terrible. The truth is, we are still behind the times with cancer therapy. If you look at the cause of death over the last hundred years, pretty much everything but cancer has gone down. Heart disease, influenza, strokes, but not cancer. This is for a variety of reasons, one of which is that we're living longer. But the thing is, our tools are terrible. We kill people with our drugs. Weve arrived at a moment when we can finally imagine a world where cancer is no big deal.

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Last Call with Jenna Balestrini, the WPI grad treating cancer with cell therapy - Worcester Mag

Province gives family facing $2.8M drug bill a glimmer of hope – CBC.ca

APikwkanagn First Nation family can now apply for government help to cover a $2.8-million drug that could change the course of their 14-month-old son's life.

"It just gives me this amazing feeling inside that they're willing to potentially help us out and give him what he needs," said Kevin Verch's mother, Dana Pearce, on Friday.

The toddler was diagnosed with spinal muscular atrophy type 2, or SMA2, on Boxing Day. The condition causes muscles to weaken over time, and without treatmentcan prevent patients from walking, feeding themselves or holding their heads up.

The family believes their son'sbest shot at avoiding the most severe effects of SMA2 is a single dose of Zolgensma, which costs $2.8 million. The drug effectively replaces the missing or malfunctioning gene that causes SMA.

Verch's doctor received a letter from the Ministry of Health on Friday morning saying patients whorequire the gene therapy can now apply under Ontario's Exceptional Access Program on a case-by-case basis. The letter, shared withCBC, acknowledges patients like Verchare facing "unique circumstances" given the astronomically high cost of the drug.

Zolgensma should be administered to patients as soon as possible after they're diagnosed with SMA. Pearce said herson requires a dose before he turns two in November.

Until mid-December 2020, families could apply for a free dose from the drug maker'smanaged access program.When Health Canada approved the drug on Dec. 16, 2020, however, Novartis ended the lottery program for residents in Canada.

Thatleft families on their ownto figure out how to pay for the drug themselves as provinces and territoriesfinalize details aroundcoverage.

"It gives us a lot of hope, and we're glad that they're starting to realize that there are quite a few babies in Canada that are struggling with this," said Pearce.

The boy's family started a GoFundMe page to raise money for his treatment, and plans to continue raising fundsin case Ontario denies the family's application.

"This is just a hope, not a guarantee," Pearce said.

If the province agrees to pay for the drug, the family is considering using the money they've raisedto covertravel costs for Verch's appointments at CHEO, as well as any mobility devices he may requirein the future. They may also donate some of the money to other families dealing with SMA.

Pearce and Verch's father are both in their early 20s, and both earnminimum wage.

As of Friday afternoon, the family's GoFundMe page has raised more than $81,000 toward their goal of $2.8 million.

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Province gives family facing $2.8M drug bill a glimmer of hope - CBC.ca

New Combination Therapy Tested By Children’s May Offer Hope For Leukemia Patients – WVXU

Cancer cells pose an uncanny ability to make new cells and dodge drugs, "somewhat like would-be robbers hacking the bank's alarm code," one doctor explains. But researchers at Cincinnati Children's Hospital Medical Center have figured out how cancer cells rewire themselves and, in turn, how to possibly overcome drug resistance.

This drug resistance may explain why some acute myeloid leukemia (AML) and other cancer patients suffer fatal relapses despite many improvements in leukemia outcomes over the years, according to a Children's news release.

"Overcoming resistance to therapy remains a holy grail of leukemia treatment," says Yi Zheng, Ph.D., director, experimental hematology and cancer biology at Cincinnati Children's. Zheng and his colleagues have now discovered a way to boost the effectiveness ofmTOR inhibitors, which prohibit unwanted cell proliferation.

"While the latest study is based on mouse models, building upon the findingspublished Dec. 21, 2020, in PNASeventually could improve outcomes for people with AML, and possibly other forms of cancer," a release says.

What Happens When Treatments Target mTOR?

"Using a novel mouse model, we have learned that deleting the mTOR gene prompts blood stem cells to multiply rapidly to open other pathways to continue producing new blood cells," says Zheng, the study's senior author. "We also found that leukemia cells use a similar response to continue multiplying despite mTOR-inhibiting treatments."

He says attacking mTOR essentially sets off alarms among hemopoietic stem cells (HSCs), which act like blood cell factories deep in bone marrow. Then the cells themselves produce a flood of new, re-wired blood cells. These re-wired stem cells, treated with mTOR inhibitors, can begin multiplying, rendering mTOR inhibitor drugs useless.

The co-authors say mTOR treatment resistance can be counteracted by inhibiting activity of the MNK, CDK9 or c-Myc genes. So-called BET inhibitors can act against c-Myc activity. Other inhibitors that are in clinical trials can act against CDK9.

Next Steps

Scientists at Cincinnati Childrens have already launched some of the research needed to prepare the combination therapies for in vivo test leading to human clinical trials, the news release says. That process will take time, but since mTOR inhibitors have been widely tested in clinical trials, investigators have a head start on exploring combination therapies.

Longer term, the findings may extend beyond AML, Zheng says, because mTOR has been a recognized target in most human cancers, including solid tumors like brain tumors.

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New Combination Therapy Tested By Children's May Offer Hope For Leukemia Patients - WVXU

This 6-year-old Iowa boy is losing his vision and hearing. But his family holds on to hope. – The Gazette

Meet John.

Hes 6. He lives with his family on a small farm in Washington, Iowa. He likes to fish he can bait his own hook and take off his own catch. He likes to climb trees. Hes as solid as any 40-pound wrestler youll meet.

And hes walking down a path thats just as bright as it may be dark.

Johns losing his vision and his hearing. Its happening slowly, and could take years.

So for now, Johns practicing single-leg takedowns and sprawls. Hes building elaborate train sets and playing oranges and lemons on the piano. Hes sitting on his dads lap to help drive the tractor.

We want him to get as much experience in certain things as he can while he can soak them up, his mom, Heather Koch, told The Gazette.

Because this isnt a story about a medical miracle. It isnt a story about some novel discovery sparking new hope for John and his family although discovery is happening.

Its a story about a more remarkable kind of hope. The kind that persists without groundbreaking advancements. The kind that isnt reliant on good news.

The kind that lives in the stark reality that is theirs.

He was born Feb. 4, 2014, and he was perfect.

His older brother, Gus, had died five years earlier at just 1 month old on Jan. 8, 2009, from Zellweger syndrome, a rare congenital disorder. His older sister was born healthy in 2012. And John came after.

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He was totally normal, Heather said. Everything was fine. He passed his newborn hearing screen.

But as John grew, she and her husband, Greg Koch, began wondering if something was off. As their 18-month-old John would go toddling down the hall in the predawn hours, Heather would try whispering him to her.

I would poke my head out of my room and I would say, quietly because everyone else was still sleeping, John, John, come here, come here, and he would keep on walking, she said. He just wasnt hearing me.

John would press musical toys hard against his ear desperate to hear their song. He also wasnt saying much besides mama, dada, and uh oh.

So when John was 2, they drove him to Cincinnati Childrens Hospital and learned he had moderate hearing loss. Because the cause was unknown, the family had John checked for a catalog of possible culprits.

Usher syndrome was on that list, Heather said.

Results would take a while, so the family returned home and eased back into their routine. Until eight weeks later, on June 23, 2016, when Heathers phone rang. She was by herself, on her way to meet her mom and sister to go shopping.

It was gut-wrenching, she said. I called Greg right away, but there was no hiding it from my mom and sister a few minutes later. So they and the rest of our families all knew that day also.

John had genetic mutations amounting to Usher syndrome type 2A.

They said he will slowly lose his hearing and his vision for the rest of his life, Heather said.

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Before getting the news, she hadnt done a lot of research on all the possible causes of Johns hearing loss.

Were not the panic type of people, so we were praying, she said. But not panicking.

They carried that mentality with them into their new reality with John which, while devastating, enabled a deeper understanding of how they could support him.

Like giving him new hearing aids. The moment John put them in, Heather said, he could hear their whispers.

He looked right at us, she said, adding, Those next few days were amazing. He could hear the chickens for the first time. And he could hear the airplanes in the sky for the first time. Big things for a 2-year-old.

The family addressed his vision troubles with new glasses, which opened to some degree a new world for John, who spent the next two years in speech therapy learning to talk like everyone else.

Once I caught seven fish in a row, John told The Gazette, showing off his storytelling skills. First cast, I caught one. Second cast, I caught one. Third cast, caught one. Fourth cast, caught one. Fifth cast, caught one. Sixth cast, caught one. Seventh cast, caught one. Like, I just cast it and reeled it in, and I just kept catching fish.

The Kochs dont have a precise picture of Johns long-term prognosis, but University of Iowa ophthalmic genetics professor Arlene Drack said patients with Ushers develop retinitis pigmentosa, a progressive type of vision loss, typically in their teens.

She reported a huge amount of research going on at the University of Iowa and around the world on how to replace or repair the genes that cause (retinitis pigmentosa).

We hope there will be a gene therapy that will help John in the future, Drack said.

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World-renowned UI Institute for Vision Research Director Edwin Stone is among those paving the way in groundbreaking research that he believes will work for patients like John.

Were hoping to have some gene and stem cell therapy that will work for this condition in this childs lifetime, he said. So I think that theres reason for optimism.

For now, Heather and Greg are heeding doctor warnings that Johns hearing and vision will continue to fade.

Theyre telling us it probably will, Heather said. Theyve been given symptoms to watch out for like trouble seeing at night.

They said he will start stumbling over things in the dark, he wont be able to see the stars in the sky, Heather said. And we have just started seeing some of the night vision symptoms.

The guessing is hard. John might trip over something in the garage and Greg will find himself wondering if its the syndrome.

How do you know? he said. Is he a 6-year-old kid whose mind gets ahead of where his feet are going? Or is it part of it? You just dont know what is what, and youre always thinking, Is that a sign?

They fight off paranoia with hope, like hope for expanding research and new technology, and by homing in on their vision for a normal life.

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Hes going to have some things to overcome, Heather said. Our job, I think, is to teach him to be tough enough to overcome those things. Because whats the alternative?

They acknowledged some things might be different or difficult for their son like driving.

So he drives now, Greg joked about his co-pilot in the field.

But theyre not raising John differently from their four other kids all of whom have tested negative for Ushers.

And, being so young, John doesnt yet know the full weight of his diagnosis.

I think one thing we probably will say is, this is just the hand you were dealt. And its not going to stop you from living your life, or accomplishing anything, or being the best person that you can be, Heather said. We will expect the same out of him that we do of all our other kids.

But they acknowledged, someday John will ask.

And he deserves to know, Greg said. But its not fair to make a 6-year-old carry that burden in its full weight like we have to carry it.

And they do.

If theres a day where hes displaying a symptom of something, thats heavy, Heather said. So you just carry that on that day.

But largely they stay optimistic.

Johns going to have the best life no matter what, she said, citing his involvement in a sport they believe will help make that possible. Thats part of wrestling.

John has been wrestling since age 3. And hes good.

He goes to Husky Wrestling Club in Riverside and started going to Big Game Wrestling Club in North Liberty, too, around age 5.

John is a light, said Big Game Chief Executive Officer and Coach Dylan Carew. His fight, courage, and personality are inspiring.

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The family is close friends with Mike Zadick, a UI All-American wrestler in the early 2000s who went on to have a successful international wrestling career.

Zadick was Heathers neighbor when they both lived in Solon and, Heather said, He and his family have become family to us.

Having seen John in matches and meets, Zadick told The Gazette, hes got a natural feel for the sport.

At a young age, 4 or 5 years old, he had real natural movement, Zadick said. It was like, Wow, look at this. You can tell when a kid has a natural feel.

Not only is John well-suited for the sport, its well-suited for him in the skills it instills might become particularly relevant as he ages.

Wrestling, the word itself, its constant work and battle and struggle, Zadick said.

Echoing that sentiment, Carew said, Adversity is every day with wrestling.

So when it comes to someone with a challenge beyond normal, what better sport?

Johns physical obstacles which may be seen by some as disabilities have actually given him an edge on the mat, according to Carew.

You can tell he focuses a lot more to details, he said. He pays more attention because he needs to.

John has to wrestle without his hearing aids or glasses leaving him reliant on skills hell increasingly lean on as he loses more of his sight and hearing.

Without those supports, Greg before matches warns officials his son cant hear them.

They need to communicate with him by touching him and using hand signals, Heather said. He usually cant hear the whistle.

But largely, when Johns on the mat, hes like any other kid. Hes fighting for take downs and escapes. Hes learning to accept losses a skill that could become especially helpful as John matures into a braver understanding of the hand hes been dealt.

Were going to make him as mentally strong as possible, so he can carry it to when he gets big enough to carry that burden, Heather said.

Take last spring, when a 38-pound John found himself in the third-place bout in the kindergarten bracket at AAU Super Pee Wee State.

I was so tired I almost fell asleep during the match, John said.

Exhausted and hurting, he barely made it into his stance before the official whistled the start of the overtime period.

But I kept wrestling, wrestling, wrestling, John said.

From the side of the mat, Heather shouted, John, youre tough bud.

And he was, holding off his opponents shot and getting behind him for two points, before jumping into his moms arms with a well-deserved sense of accomplishment one sense hes in no danger of losing.

Comments: (319) 339-3158; vanessa.miller@thegazette.com

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This 6-year-old Iowa boy is losing his vision and hearing. But his family holds on to hope. - The Gazette

What Is Gene Therapy? How Does It Work? | FDA

Espaol

The genes in your bodys cells play an important role in your health indeed, a defective gene or genes can make you sick.

Recognizing this, scientists have been working for decades on ways to modify genes or replace faulty genes with healthy ones to treat, cure or prevent a disease or medical condition.

Now this research on gene therapy is finally paying off. Since August 2017, the U.S. Food and Drug Administration has approved three gene therapy products, the first of their kind.

Two of them reprogram a patients own cells to attack a deadly cancer, and the most recent approved product targets a disease caused by mutations in a specific gene.

What is the relationship between cells and genes?f

Cells are the basic building blocks of all living things; the human body is composed of trillions of them. Within our cells there are thousands of genes that provide the information for the production of specific proteins and enzymes that make muscles, bones, and blood, which in turn support most of our bodys functions, such as digestion, making energy, and growing.

Sometimes the whole or part of a gene is defective or missing from birth, or a gene can change or mutate during adult life. Any of these variations can disrupt how proteins are made, which can contribute to health problems or diseases.

In gene therapy, scientists can do one of several things depending on the problem that is present. They can replace a gene that causes a medical problem with one that doesnt, add genes to help the body to fight or treat disease, or turn off genes that are causing problems.

In order to insert new genes directly into cells, scientists use a vehicle called a vector which is genetically engineered to deliver the gene.

Viruses, for example, have a natural ability to deliver genetic material into cells, and therefore, can be used as vectors. Before a virus can be used to carry therapeutic genes into human cells, however, it is modified to remove its ability to cause an infectious disease.

Gene therapy can be used to modify cells inside or outside the body. When its done inside the body, a doctor will inject the vector carrying the gene directly into the part of the body that has defective cells.

In gene therapy that is used to modify cells outside of the body, blood, bone marrow, or another tissue can be taken from a patient, and specific types of cells can be separated out in the lab. The vector containing the desired gene is introduced into these cells. The cells are left, to multiply in the laboratory, and are then injected back into the patient, where they continue to multiply and eventually produce the desired effect.

Before a company can market a gene therapy product for use in humans, the gene therapy product has to be tested for safety and effectiveness so that FDA scientists can consider whether the risks of the therapy are acceptable in light of the benefits.

Gene therapy holds the promise to transform medicine and create options for patients who are living with difficult, and even incurable, diseases. As scientists continue to make great strides in this therapy, FDA is committed to helping speed up development by prompt review of groundbreaking treatments that have the potential to save lives.

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What Is Gene Therapy? How Does It Work? | FDA

What is gene therapy? – The Star Online

I have heard about people using genes to treat diseases nowadays, but I am not sure what this gene therapy means.

Gene therapy involves trying to alter or modify the genes inside your bodys cells in order to treat or stop a disease.

Since 2017, the US Food and Drug Administration (FDA) has approved three different types of gene therapy.

Maybe we can start at the beginning: what are genes?

Genes are the basic physical and functional unit of heredity.

Our genes are made out of DNA (deoxyribonucleic acid).

Each person has two copies of each gene one inherited from your mother and the other inherited from your father.

Each human being has around 20,000 to 25,000 genes.

These genes code for the way your body and mind are structured.

Some genes act as instructions (a blueprint) for your body to make various proteins, which in turn form your cells and organs, and the enzymes and hormones that regulate your body.

Other genes do not code for proteins.

Most genes are the same for all human beings, which is why we all look like human beings (and not a kangaroo, fish, bird or an alien)!

However, just under 1% of our genes vary slightly between each person.

That is why we have different races, heights, propensity for different diseases, curly or straight hair, etc.

These small differences also contribute to why we all look different from one another.

Genes that dont work as they should also cause diseases in the human body.

What types of diseases are caused by faulty genes?

These are what we call genetic disorders.

A genetic disease is any type of disease caused by an abnormality in our genetic blueprint.

This abnormality can range from very minor to significantly major.

What we consider minor is, for example, a small mutation in the DNA of a single gene resulting in the change of a single base protein.

What we consider major is a gross chromosomal abnormality, such as the addition of a whole chromosome or the subtraction of one.

Some genetic disorders are inherited from our parents.

Others are caused by mutations due to our environment.

Examples of single gene disorders, which are caused by the alteration of just one gene in our bodies, are:

Examples of multifactorial inheritance, which are caused by a combination of environmental factors and mutations in many of our genes, are:

If we inherited these genes from our parents, then how can we possibly modify or alter them? This sounds terribly like science fiction.

We are rapidly approaching that era where what used to be science fiction could become part of our everyday life.

In gene therapy, scientists can:

How do they do this? Do they have to harvest my cells? Im scared just thinking about it!

Many of the vectors are viruses, especially adenoviruses (not coronaviruses!).

Viruses have a natural ability to deliver genetic material into our cells.

After all, their main purpose is to attach themselves to cells and reproduce themselves.

Sometimes, the vector or virus is injected straight into our bodies, where they will deliver the gene that will modify our cells.

They are injected straight into the part of our body that has those defective cells.

Other times, we have to harvest healthy tissue from our body that needs to be modified.

These are usually tissues containing immune cells or stem cells, e.g. blood or bone marrow.

These tissue samples are then taken to the lab and specific cells are separated out.

The viral vector containing the corrective gene is then introduced to the harvested cells in the lab.

The modified cells are left to multiply, and then injected back into us.

Once inside our bodies, they will continue to multiply and eventually treat the disease or correct the defect within us.

Learn more about gene therapy in the next Tell Me About column on Dec 31 (2020).

Dr YLM graduated as a medical doctor, and has been writing for many years on various subjects such as medicine, health, computers and entertainment. For further information, email starhealth@thestar.com.my. The information contained in this column is for general educational purposes only. Neither The Star nor the author gives any warranty on accuracy, completeness, functionality, usefulness or other assurances as to such information. The Star and the author disclaim all responsibility for any losses, damage to property or personal injury suffered directly or indirectly from reliance on such information.

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What is gene therapy? - The Star Online

What It’s Like Rising A Little Boy With Advanced Breast Cancer – Oprah Mag

Vichhika Taing with Autumn Love Photography

My goal in life is to see my two boys, who are now 5 and 7, graduate from high school. That might not seem like a lot, but at one point I wasnt even sure if I would see them start kindergarten.

Around four years ago, when I was 38 and the kids were about 1 and 3, I noticed I was walking with a limp and had a lot of back pain. But I dont like to complain, so I just kept going. Then one day, I was tandem breastfeeding my boys and I felt a lump in my breast. I wasnt that surprised, because I had an overabundance of milk and had experienced lots of clogs in my milk ducts. I asked my lactation consultant about it, and she sent me to see my primary care doctor.

My primary care doctor wasnt overly concerned, but because my mother was then a 13-year breast cancer survivor, I had a mammogram just to be safe. Having a mammogram while youre breastfeeding is crazyit was so painful, and I showered the machine with milk! They also did a diagnostic ultrasound that day, and then referred me for a biopsy. I had a hunch something might not be right, but I didn't let myself go into full on panic mode yet.

I was one bad step away from that bone shattering, and had to have surgery right away.

It was March 8, 2017 when I found out I had breast cancer, and after that it was like boom, boom, boom, things happened so fast. I had a lumpectomy and started chemo, and then a whirlwind of scans and appointments. I was soon told I had Stage IV metastatic breast cancer that had already spread through my blood to my bones. The reason I was limping was that there was a 5 cm tumor in the middle of my right femurI was one bad step away from that bone shattering, and had to have surgery right away to place titanium rods into both of my thighbones.

I haven't had enough time with my kids! That was my very first thought when the doctor told me the median life expectancy for metastatic breast cancer is 2 to 3 years. They were so young that I was legitimately concerned that they wouldnt even remember me. All I wanted was more time to spend with them.

When I first was diagnosed, my breast surgeon did genetic testing for the BRCA 1 and 2 gene mutations, both of which substantially raise your risk of breast cancer. Those were negative. But once we realized how advanced my cancer was, I had the full genetic panel done. In 2017, there were 40 genes known to be associated with breast cancer. And it came up that I was positive for a mutation in the ATM gene, which not only increases the risk for breast cancer and pancreatic cancer in women, but also prostate cancer in men. Of course, I let everyone in my family know what my genetic testing found, and a lot of relatives have now tested for ATM. Several are positive, and a sister and cousin of mine had prophylactic (preventative) double mastectomies, which dramatically reduces their risk of breast cancer. Genetic testing really had a huge effect on my entire family.

Abigail Johnston

The genetic testing also identified four somatic mutation (those caused randomly or due to environmental factors, not genetics), including PIK3CA. I was elated to learn that PIK3CA has an actionable treatment right now, but Im glad that I know about the other ones, despite the lack of treatment options. It means I can watch for new medications that might help down the line. Luckily, there is lots of research in the works.

My oncologist told me it was the closest I had come to being at No Evidence of Active Disease (NEAD).

In August 2019, after two years on the first drug, a PET scan showed that my cancer had mutated and the drug I was using was no longer effective. Since I had already gotten tested for PIK3CA, I was able to start a brand-new drug that was targeted to that mutation right away. But after several months on that second drug, another scan showed that the cancer in my bones was becoming more metabolically active, so I added another drug to my regimen. There are a lot of side effects, but its worth it to keep my cancer in check.

My most recent PET scan showed that this combination of drugs is working. I am currently stablemy medical oncologist told me it was the closest I had come to being at No Evidence of Active Disease (NEAD). It was the best scan Ive had in three and a half years.

Cancer has definitely changed things. I was really active before my diagnosis, and my boys are very high-energy, but now we do a lot more sedentary things, like crafts and science projectsthey love anything thats really messy, like slime and paint. We live in Miami, so we also spend a lot of time in the pool, which is great, because theyre like little fish, and I do a lot of my physical therapy in the water. On days when Im not feeling well, we have a lot of cuddles and snuggles in bed.

Abigail Johnston

The hardest thing is that I cant move too quickly or grab my kids if they run out in the middle of the street, so we have a baby-sitter to help with that. And since having cancer is just all-around challenging, about three years ago, my family moved in with my parents, so my mom can help out, too. My husband, Elliot, has also been amazing. He is so patient, loyal, consistent, and kind.

Ive met the first big goal I set when I was diagnosed, which was to see both my boys enter kindergarten! Now we have 12 more years until my younger son graduates high school, and Im feeling hopeful that a medication targeted to my body and my cancer will get me there.

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What It's Like Rising A Little Boy With Advanced Breast Cancer - Oprah Mag

EAPM Advancing gene therapy with Advanced Therapy Medicinal Products – EU Reporter

Good afternoon, and welcome health colleagues to the first European Alliance for Personalised Medicine (EAPM) update of the week, as we move delightedly towards Christmas. EAPM has just released a leading paper on gene therapy more of this below, along with the customary updates, writes EAPM Executive Director Denis Horgan.

ATMPs push forward prospects for tackling severe disease

EAPM has released a paper on gene therapy, based on its recent policy discussion, Propelling Healthcare with Advanced Therapy Medicinal Products.Challenges confront the sector, complicating the translation from research into patient access. Scientific, clinical development and regulatory issues are compounded by limited experience with clinical and commercial use, limited manufacturing know-how, high costs, and difficulties in accessing development funding and investment.

Pricing and reimbursement and market access issues are an additional challenge, particularly in Europe, where unfamiliarity with the technology and uncer- tainty over the use of real-world evidence induce caution among clinicians, health technology assessment bodies and payers. There is a need for a review of the suitability of the regula- tory and market access framework for these products, focused development of data, public/ private partnerships, and fuller collaboration governments, doctors, insurers, patients, and pharmaceutical companies.

This paper makes specific recommendations for allstakeholders, ranging from early dialogue on potential products, linking of clinical data, and patient registries or standardization of control frameworks, to a comprehensive approach to evidencegeneration, assessment, pricing, and payment for ATMPs.The paper isavailable here.

5.1 billion secured for EU Health Programme

On 14 December, the biggest ever EU Health Programme and the rules to distribute its 5.1 billion funds were agreed. Negotiators of the European Parliament and EU member states struck a deal on the law setting up the European Unions so called 'EU4Health' Programme from 2021 onwards.

"The COVID-19 pandemic has revealed that Europe was not equipped to deal with a serious health crisis. During the first peak of the pandemic, we not only lacked doctors, nurses and medical staff, but also medicines and medical equipment. It must never happen again that a doctor must choose who lives or dies because the hospital does not have resources to help all," said the EPP Group's Cristian Silviu Buoi MEP, the lead negotiator for the European Parliament and a stronger support of EAPM.

"Therefore, the programme will allocate funds for the establishment of a reserve for essential crisis-relevant products, medical and healthcare staff, in synergy and complementarity with other EU instruments," he added. Requisite to the health programme that Buoi negotiated is an increase in health funding in the new EU long-term budget.

The EPP Group also wanted the programme to support the training of health staff, reduce health inequalities, support digitalization in the health-care sector, finance a masterplan against cancer and bring back the production of medicines to Europe.

WHO does not envisage COVID-19 vaccines being made mandatory

The World Health Organization (WHO) does not foresee countries making it mandatory for citizens to take the new COVID-19 vaccines which have been developed, an official said. I dont think we envisage any countries creating a mandate for vaccinations, Kate OBrien, the WHOs director of immunization vaccines and biologicals, told a news conference.

Pressure mounts on EU drug regulator to approve COVID-19 vaccine

Europes drug regulator is under increasing pressure to quickly approve the COVID-19 vaccine developed by Germanys BioNTech, officials said, as inoculations get started in Britain and the United States. The push underscores the frictions between regulators and governments wishing to curb the pandemic that has killed more than 1.6 million people worldwide. Four EU sources said that the European Medicines Agency (EMA) has been under pressure from the European Commission and EU governments to approve vaccines more quickly. One EMA official said on 14December that pressure had increased on the agency from EU governments through usual channels of communications after 2 December, when the British regulator granted an emergency authorization to the Pfizer/BioNTech vaccine.

UK health secretary announces discovery of new coronavirus variant

UK Health SecretaryMatt Hancock appeared in the House of Commons on Monday (14 December) to give an urgent statement to MPs on the coronavirus pandemic in the UK. He said experts haveidentified a new variant of COVID-19 which may be responsible for the "faster spread" in south-east England.

Hancock said: "Over the last few days, thanks to our world-class genomic capability in the UK, we have identified a new variant of coronavirus which may be associated with the faster spread in the south of England."

He added: "Initial analysis suggests that this variant is growing faster than the existing variants. We've currently identified over 1,000 cases with this variant predominantly in the South of England although cases have been identified in nearly 60 different local authority areas."

When asked if the new variant will impact the effectiveness of the vaccine, Hancock said: "The medical advice that we have is that it is highly unlikely that this new variant will impinge the vaccine and the impact of the vaccine. But we will know that in the coming days and weeks as the new strand is cultured at Porton Down and then the tests conducted upon it.

WHO a touch more circumspect

The World Health Organization is aware of the new variant of COVID-19 that has emerged in Britain, but there is no evidence the strain behaves differently to existing types of the virus, it said onMonday (14 December).We are aware of this genetic variant reported in 1,000 individuals in England, the WHOs top emergencies expert Mike Ryan told a news briefing in Geneva. Authorities are looking at its significance. We have seen many variants, this virus evolves and changes over time.

FDA authorizes vaccine following extreme Trump pressure

The US Food and Drug Administration (FDA) on Friday (11 December) gave emergency use authorization to the nations first coronavirus vaccine, launching what scientists hope will be a critical counteroffensive against a pathogen that has killed more than 290,000 Americans, shredded the nations social and political fabric and devastated the economy.

The historic authorization of thevaccine from Pfizer and BioNTech for people age 16 and older, just 336 days after the genetic blueprint of a novel coronavirus was shared online by Chinese scientists, sets in motion a highly choreographed and complex distribution process aimed at speeding vaccines throughout the United States to curb the pandemic.

US President Donald Trump had put the FDA under extreme pressure to approve thevaccine, describing the organization as a slow, old turtle in a tweet. The FDA action came after White House Chief of Staff Mark Meadows on Friday told FDA commissioner Stephen Hahn to be prepared to submit his resignation if the agency did not clear the vaccine by days end, according to people familiar with the situation who spoke on the condition of anonymity because they were notauthorized to discuss what happened.

And that is everything for the start of the week from EAPM dont forget to check our gene therapy paperhere,have an excellent week.

See original here:
EAPM Advancing gene therapy with Advanced Therapy Medicinal Products - EU Reporter

San Diego’s Locanabio raises $100 million for treatments aimed at degenerative diseases – The San Diego Union-Tribune

Locanabio, a San Diego gene therapy company focused on treatments for severe neurodegenerative diseases such as Huntingtons and Lou Gehrigs disease, has raised $100 million in a second round of venture capital funding.

The Torrey Pines Mesa company will use the money for further pre-clinical and clinical development of its proprietary RNA-targeting system to fight degenerative diseases including myotonic dystrophy type 1 and retinal disease, along with Huntingtons and genetic ALS.

Locanabios approach is to combine two methods for treating diseases gene therapy and RNA modification. The platform consists of several RNA-targeting systems that are combined with gene therapy delivery to modify dysfunctional RNA.

The capabilities of the platform could allow Locanabio to develop treatments for a wide range of genetic diseases beyond those on its current roadmap.

This financing positions us to accelerate our efforts to advance multiple promising programs into (new drug) studies in 2021 and to further develop our novel RNA-targeting platform, which has the potential to be a major new advance in medicine that can bring hope to patients with many devastating genetic diseases, said Chief Executive Jim Burns in a statement.

Burns joined Locanabio in December 2019 from Casebia, where he served as the chief executive and led the team in developing CRISPR-based therapeutics to treat blood disorders, blindness and heart disease. Before that, he spent the bulk of his career at Sanofi-Genzyme, where he held several leadership roles.

This latest financing was led by Vida Ventures. Other new investors participating include RA Capital Management, Invus, Acuta Capital Partners and an investment fund associated with SVB Leerink.

Prior investors ARCH Venture Partners, Temasek, Lightstone Ventures, UCB Ventures and Google Ventures also participated. Lonanabio previously raised $55 million in May 2019.

As part of the funding round, Rajul Jain, a medical doctor and director of Vida Ventures, will join Locanabios board of directors.

The unique approach in RNA targeting using gene therapy to deliver RNA binding proteins developed by Locanabio represents the next frontier of genetic medicine with the ability to target the root cause of a range of genetic diseases, said Jain in a statement. They have built a strong management team to execute this bold vision, and we are proud to support them.

See the article here:
San Diego's Locanabio raises $100 million for treatments aimed at degenerative diseases - The San Diego Union-Tribune

Italy needs new restrictions to avoid third, devastating COVID-19 wave – PM to paper – EU Reporter

Good afternoon, and welcome health colleagues to the first European Alliance for Personalised Medicine (EAPM) update of the week, as we move delightedly towards Christmas. EAPM has just released a leading paper on gene therapy more of this below, along with the customary updates, writes EAPM Executive Director Denis Horgan.

ATMPs push forward prospects for tackling severe disease

EAPM has released a paper on gene therapy, based on its recent policy discussion, Propelling Healthcare with Advanced Therapy Medicinal Products.Challenges confront the sector, complicating the translation from research into patient access. Scientific, clinical development and regulatory issues are compounded by limited experience with clinical and commercial use, limited manufacturing know-how, high costs, and difficulties in accessing development funding and investment.

Pricing and reimbursement and market access issues are an additional challenge, particularly in Europe, where unfamiliarity with the technology and uncer- tainty over the use of real-world evidence induce caution among clinicians, health technology assessment bodies and payers. There is a need for a review of the suitability of the regula- tory and market access framework for these products, focused development of data, public/ private partnerships, and fuller collaboration governments, doctors, insurers, patients, and pharmaceutical companies.

This paper makes specific recommendations for allstakeholders, ranging from early dialogue on potential products, linking of clinical data, and patient registries or standardization of control frameworks, to a comprehensive approach to evidencegeneration, assessment, pricing, and payment for ATMPs.The paper isavailable here.

5.1 billion secured for EU Health Programme

On 14 December, the biggest ever EU Health Programme and the rules to distribute its 5.1 billion funds were agreed. Negotiators of the European Parliament and EU member states struck a deal on the law setting up the European Unions so called 'EU4Health' Programme from 2021 onwards.

"The COVID-19 pandemic has revealed that Europe was not equipped to deal with a serious health crisis. During the first peak of the pandemic, we not only lacked doctors, nurses and medical staff, but also medicines and medical equipment. It must never happen again that a doctor must choose who lives or dies because the hospital does not have resources to help all," said the EPP Group's Cristian Silviu Buoi MEP, the lead negotiator for the European Parliament and a stronger support of EAPM.

"Therefore, the programme will allocate funds for the establishment of a reserve for essential crisis-relevant products, medical and healthcare staff, in synergy and complementarity with other EU instruments," he added. Requisite to the health programme that Buoi negotiated is an increase in health funding in the new EU long-term budget.

The EPP Group also wanted the programme to support the training of health staff, reduce health inequalities, support digitalization in the health-care sector, finance a masterplan against cancer and bring back the production of medicines to Europe.

WHO does not envisage COVID-19 vaccines being made mandatory

The World Health Organization (WHO) does not foresee countries making it mandatory for citizens to take the new COVID-19 vaccines which have been developed, an official said. I dont think we envisage any countries creating a mandate for vaccinations, Kate OBrien, the WHOs director of immunization vaccines and biologicals, told a news conference.

Pressure mounts on EU drug regulator to approve COVID-19 vaccine

Europes drug regulator is under increasing pressure to quickly approve the COVID-19 vaccine developed by Germanys BioNTech, officials said, as inoculations get started in Britain and the United States. The push underscores the frictions between regulators and governments wishing to curb the pandemic that has killed more than 1.6 million people worldwide. Four EU sources said that the European Medicines Agency (EMA) has been under pressure from the European Commission and EU governments to approve vaccines more quickly. One EMA official said on 14December that pressure had increased on the agency from EU governments through usual channels of communications after 2 December, when the British regulator granted an emergency authorization to the Pfizer/BioNTech vaccine.

UK health secretary announces discovery of new coronavirus variant

UK Health SecretaryMatt Hancock appeared in the House of Commons on Monday (14 December) to give an urgent statement to MPs on the coronavirus pandemic in the UK. He said experts haveidentified a new variant of COVID-19 which may be responsible for the "faster spread" in south-east England.

Hancock said: "Over the last few days, thanks to our world-class genomic capability in the UK, we have identified a new variant of coronavirus which may be associated with the faster spread in the south of England."

He added: "Initial analysis suggests that this variant is growing faster than the existing variants. We've currently identified over 1,000 cases with this variant predominantly in the South of England although cases have been identified in nearly 60 different local authority areas."

When asked if the new variant will impact the effectiveness of the vaccine, Hancock said: "The medical advice that we have is that it is highly unlikely that this new variant will impinge the vaccine and the impact of the vaccine. But we will know that in the coming days and weeks as the new strand is cultured at Porton Down and then the tests conducted upon it.

WHO a touch more circumspect

The World Health Organization is aware of the new variant of COVID-19 that has emerged in Britain, but there is no evidence the strain behaves differently to existing types of the virus, it said onMonday (14 December).We are aware of this genetic variant reported in 1,000 individuals in England, the WHOs top emergencies expert Mike Ryan told a news briefing in Geneva. Authorities are looking at its significance. We have seen many variants, this virus evolves and changes over time.

FDA authorizes vaccine following extreme Trump pressure

The US Food and Drug Administration (FDA) on Friday (11 December) gave emergency use authorization to the nations first coronavirus vaccine, launching what scientists hope will be a critical counteroffensive against a pathogen that has killed more than 290,000 Americans, shredded the nations social and political fabric and devastated the economy.

The historic authorization of thevaccine from Pfizer and BioNTech for people age 16 and older, just 336 days after the genetic blueprint of a novel coronavirus was shared online by Chinese scientists, sets in motion a highly choreographed and complex distribution process aimed at speeding vaccines throughout the United States to curb the pandemic.

US President Donald Trump had put the FDA under extreme pressure to approve thevaccine, describing the organization as a slow, old turtle in a tweet. The FDA action came after White House Chief of Staff Mark Meadows on Friday told FDA commissioner Stephen Hahn to be prepared to submit his resignation if the agency did not clear the vaccine by days end, according to people familiar with the situation who spoke on the condition of anonymity because they were notauthorized to discuss what happened.

And that is everything for the start of the week from EAPM dont forget to check our gene therapy paperhere,have an excellent week.

Continue reading here:
Italy needs new restrictions to avoid third, devastating COVID-19 wave - PM to paper - EU Reporter

Yes, men can get breast cancer here are the symptoms to watch for – Insider – INSIDER

While breast cancer is usually considered a disease that only affects women, anyone with breast cells and tissue can be diagnosed with breast cancer, males included. Even so, male breast cancer is rare.

"This isn't a disease that's 'just for women.' Patients often don't realize this which can, unfortunately, lead to delays in diagnosis," says Abisola Olulade, MD, a family medicine physician at Sharp Rees-Stealy Downtown in San Diego, California. "In the United States, male breast cancer represents between 0.5% and 1.0% of all breast cancers diagnosed each year. This means that about one out of every 100 breast cancers diagnosed in the United States is found in a man."

In this article we'll discuss the most common forms of male breast cancers, its symptoms, and potential risk factors.

Male breast cancer occurs when malignant cells form in the tissues of the breast. Common forms of male breast cancer include:

Unfortunately, doctors are still unsure of the exact causes of breast cancer, though genetics and increased levels of estrogen may be risk factors.

In particular, increased estrogen is associated with conditions like liver disease, obesity, and certain hormone therapies like anti-androgen therapy, says Monisha Bhanote, MD, a triple board-certified physician and cytopathology specialist in Jacksonville Beach, FL. where she runs her own private practice.

"Hereditary causes may include BRCA2 mutation carriers, PTEN mutation (Cowden syndrome), and CHEK2 mutation carriers," says Bhanote

BRCA1 and BRCA2 (BReast CAncer genes 1 and 2) are genes that are related to breast cancer risk. While everyone has both BRCA1 and BRCA2 genes, some people inherit a gene mutation in one or both of these genes. This mutation increases the risk of developing breast cancer.

"Men with BRCA mutations are recommended to have annual screening," says Bhanote. "Examination for any masses, nipple discharge, or skin dimpling/puckering on a daily basis will

be helpful."

Additional factors that may increase a person's risk are medications such as antidepressants, marijuana, and radiation from cancer treatment.

Male breast cancer spreads in the same way that female breast cancer spreads, through the lymphatics and blood vessels. An estimated 520 men will die from breast cancer this year.

Signs and symptoms of male breast cancer can include:

While finding a lump on one or both of your breasts can be alarming, finding a lump doesn't necessarily mean that you have breast cancer. It could be gynecomastia or enlarged breast tissue.

Though gynecomastia has many causes, liver disease and drugs or medications that contain high doses of testosterone account for about 25% of gynecomastia cases, according to Harvard Men's Health Watch.

Gynecomastia is often benign and resolves on its own. That being said, it's still a good idea to see your doctor if you notice any lumps or changes, especially if you're experiencing pain or discomfort.

Because men are less likely to receive a mammogram, it's important to learn how to perform a male self-breast examination. As a patient, it's imperative to become familiar with your body so you can advocate for yourself and notice when changes occur. Here's a quick step-by-step guide on how to self-check your breasts at home:

You can also check your breasts while lying down. To do this, set a pillow underneath your right shoulder and bend your right arm over your head. Use the fingertips of your left hand to check all areas of your breast and armpit. Once you're finished, switch the pillow to your left shoulder and repeat this process.

If you're uncomfortable doing a self-breast examination, or you fear that you're not doing it correctly, ask your physician to perform a clinical breast exam for you. Depending on how the examination goes, your physician may order a mammogram, an ultrasound, or an MRI.

If you're diagnosed with male breast cancer, your treatment plan will depend on how far the cancer has spread. Practicing monthly self-breast exams, in addition to receiving a breast examination by your physician, could improve your chances of detecting breast abnormalities early. Early detection is the key to successful treatment.

Possible treatments for male breast cancer include:

Although researchers can't pinpoint the causes of breast cancer in men, they have found a few risk factors.

Risk factors that may lead to developing male breast cancer include:

"Unfortunately, there isn't anything you can do to prevent male breast cancer," says Nicholas Jones, MD, FACS. "However, you can lower your risks by being active, and limiting your alcohol consumption."

In addition, avoiding hormonal supplements, such as sexual performance enhancement supplements, may help to prevent male breast cancer. According to a 2019 study, the use of hormonal male enhancement supplements can lead to the higher levels of androgens, which may cause the growth of tumors.

Though the likelihood of developing male breast cancer is low, it's important to pay attention to your body. If you notice any changes in your skin color, new rashes, lumps, or bumps, you should seek medical help right away.

"There isn't a great screening tool for men," Jones adds. "The best action is to know your body, live a healthy lifestyle and if you notice anything out of the norm, visit your doctor. Specifically for male breast cancer, any change involving the nipple may be a sign that there is an underlying cancer."

View post:
Yes, men can get breast cancer here are the symptoms to watch for - Insider - INSIDER

Mumbai: Baby with genetic disorder needs Rs 16 crore therapy to live – Mid-day

The COVID-19 lockdown had brought some cheer for Andheri-based Kamat couple as they welcomed their first child - Teera - on August 14. But soon things went awry when their daughter was diagnosed with a rare genetic disorder - Spinal Muscular Atrophy (SMA). Three-month-old Teera's parents - Mihir, 35, and Priyanka Kamat, 33, have been doing everything possible for their daughter's treatment but the biggest challenge for them is to raise '16 crore for a single shot of gene therapy, the only way she can survive.

Teera with her parents Mihir and Priyanka Kamat

Teera has been diagnosed with SMA Type 1, which is said to be a more serious form of the disorder. Speaking to mid-day, Mihir, who works for a software company, said, "Teera was born a happy and cheerful baby. As weeks went by, we noticed she was having heavy breathing patterns and it would also take a long time to feed her. Very soon, she developed multiple issues like severe dehydration, heavy breathing, choking on feeds etc, and we finally found a doctor in our area who recommended we start bottle feeding."

"On the day of her vaccination (September 30), her doctor noticed that she was choking on her first drops of vaccine. She was also not being able to resist with her hands and the right leg wasn't moving," Mihir recalled.

"The doctor referred us to a paediatric neurologist who mentioned that Teera might have hypotonia, slow reflexes, paradoxical respiration and a weak cry. Following her EMG and genetic test, we got to know that she is suffering from SMA Type 1. The next shock was the cost of the drug, which needs to be imported from the United States. Teera needs it before she turns six months old, the golden period to save her. We started doing a bit of research on the disorder and found out about some foreign nationals who have written positively about the treatment and how they could 'crowd fund' such a large sum by registering on a similar platform," added Mihir.

"We registered our daughter's details with crowd funding platform Impact Guru and in less than a month 8,187 donors contributed nearly '2.36 crore, said the couple. Mihir further said, "Our consulting paediatric neurologist Dr Neelu Desai has already registered Teera for the Switzerland HQ Novartis pharma company global lottery, where selected registered patients get the drug free of cost." "Just three weeks ago Teera had to be rushed to Holy Spirit hospital in Andheri East, as she got choked during her feed and turned pale. She had to be kept at the hospital for the next couple of days," her father said.

SMA is a progressive, rare genetic disease that is caused by missing genes or those that don't work properly, which might be survival motor neuron 1 (SMN1). This gene is basically the blueprint responsible for making a protein required for the survival of the spinal nerve cells. Without this SMN gene the cells in the body start to die and motor neuron cells become weaker thus causing muscle weakness in every part of the body below the neck.

Piyush Jain, co-founder and CEO of ImpactGuru.com, said, "In one month, 8,187 donors have contributed '2.36 crore. This is Impact Guru's highest single fundraiser. Among the donors is a noted Bollywood actor, who donated '5 lakh We are currently working towards ensuring the target is met by all means."

Dr Neelu Desai

Dr Desai said, "Teera is one of the youngest patients I'm treating at the moment. If she doesn't get the special gene therapy, then she might survive for about two years. Until last five years, there was no treatment for SMA, but now we have gene therapy, for which Teera has been registered."

She further said, "This is a rarest of rare disorder (1 in 5,000 infants suffer from it world over). In case a baby does not develop proper motor skills or his/her body feels very soft then parents should consult paediatricians. Parents who have a child with SMA, have 25 per cent chances of the same disorder developing in the subsequent pregnancies, which can be confirmed in the first few months by doing a genetic test."

Link to the fundraiser - https://www.impactguru.com/fundraiser/donate-to-teera

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Mumbai: Baby with genetic disorder needs Rs 16 crore therapy to live - Mid-day

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